Maternal mild hyperphenylalaninaemia: an international survey of offspring outcome
Summary Maternal phenylketonuria (PKU) has adverse effects on the offspring including microcephaly, mental retardation, congenital heart disease, and intrauterine growth retardation. Maternal non-PKU mild hyperphenylalaninaemia (MHP) is believed to be benign, but whether there may be long-term conse...
Gespeichert in:
| Veröffentlicht in: | The Lancet (British edition) 1994-12, Vol.344 (8937), p.1589-1594 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 1594 |
|---|---|
| container_issue | 8937 |
| container_start_page | 1589 |
| container_title | The Lancet (British edition) |
| container_volume | 344 |
| creator | Levy, H.L Waisbren, S.E Lobbregt, D Allred, E Leviton, A Schuler, A Trefz, F.K Schwietzer, S.M Sardharwalla, I.B Walter, J.H Barwell, B.E Berlin, C.M |
| description | Summary
Maternal phenylketonuria (PKU) has adverse effects on the offspring including microcephaly, mental retardation, congenital heart disease, and intrauterine growth retardation. Maternal non-PKU mild hyperphenylalaninaemia (MHP) is believed to be benign, but whether there may be long-term consequences to offspring is unclear. In an international survey we have obtained information about 86 mothers with MHP (blood phenylalanine 167-715 μmol/L), their 219 untreated pregnancies, and 173 offspring.
Spontaneous fetal loss (13% of pregnancies), congenital heart disease (2·3% of offspring), and severe non-cardiac anomalies (2·9% of offspring) occurred at frequencies within expected limits for the general population. For weight and length at birth the median percentile was the 50th but that for birth head circumference was the 25th. Median z-scores for birth length and head circumference were significantly lower for offspring of mothers with phenylalanine concentrations above 400 μmol/L than for those whose mothers had lower values (p=0·05 and p=0·005, respectively). The median intelligence quotient (IQ) of the offspring (3-27 years) was 100 for those whose mothers had higher phenylalanine concentrations and 108 for those of the lower phenylalaninaemia group. However, offspring IQ correlated slightly more closely with maternal IQ (
r=0·53, p |
| doi_str_mv | 10.1016/S0140-6736(94)90404-9 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_76873742</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0140673694904049</els_id><sourcerecordid>8738862</sourcerecordid><originalsourceid>FETCH-LOGICAL-c331t-23ee6e64df39941d530e575631b27aa2d5b6f1deb0a606a0af29c8ce9912f4eb3</originalsourceid><addsrcrecordid>eNqFkMuLFDEQh4Mo6-zqn7DQiIgeWpPOa-JFZFkfsCL4AG-hOl1xs3QnY9K9MP-9mQdz8CIU1KG-Kn71EXLJ6GtGmXrznTJBW6W5emnEK0MFFa15QFZMaNFKoX89JKsT8picl3JHKRWKyjNyps2aG9OtyLcvMGOOMDZTGIfmdrvBvLnFuB1hhBgi4BTgbQOxCXEPziHt6LLke9w2ydfyZZND_N2kZXZpwifkkYex4NNjvyA_P1z_uPrU3nz9-Pnq_U3rOGdz23FEhUoMviYRbJCcotRScdZ3GqAbZK88G7CnoKgCCr4zbu3QGNZ5gT2_IC8Odzc5_VmwzHYKxeFYc2NaitVqrbkWXQWf_QPepWX3c7HMrI2uflSF5AFyOZWS0dv61AR5axm1O-F2L9zubFoj7F64NXXv8nh86SccTltHw3X-_DiH4mD0GaIL5YRx0UnJRcXeHTCsxu4DZltcwOhwCBndbIcU_hPkL7w3nZQ</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>198977366</pqid></control><display><type>article</type><title>Maternal mild hyperphenylalaninaemia: an international survey of offspring outcome</title><source>MEDLINE</source><source>Business Source Complete</source><source>ScienceDirect Journals (5 years ago - present)</source><source>ProQuest Central UK/Ireland</source><creator>Levy, H.L ; Waisbren, S.E ; Lobbregt, D ; Allred, E ; Leviton, A ; Schuler, A ; Trefz, F.K ; Schwietzer, S.M ; Sardharwalla, I.B ; Walter, J.H ; Barwell, B.E ; Berlin, C.M</creator><creatorcontrib>Levy, H.L ; Waisbren, S.E ; Lobbregt, D ; Allred, E ; Leviton, A ; Schuler, A ; Trefz, F.K ; Schwietzer, S.M ; Sardharwalla, I.B ; Walter, J.H ; Barwell, B.E ; Berlin, C.M</creatorcontrib><description>Summary
Maternal phenylketonuria (PKU) has adverse effects on the offspring including microcephaly, mental retardation, congenital heart disease, and intrauterine growth retardation. Maternal non-PKU mild hyperphenylalaninaemia (MHP) is believed to be benign, but whether there may be long-term consequences to offspring is unclear. In an international survey we have obtained information about 86 mothers with MHP (blood phenylalanine 167-715 μmol/L), their 219 untreated pregnancies, and 173 offspring.
Spontaneous fetal loss (13% of pregnancies), congenital heart disease (2·3% of offspring), and severe non-cardiac anomalies (2·9% of offspring) occurred at frequencies within expected limits for the general population. For weight and length at birth the median percentile was the 50th but that for birth head circumference was the 25th. Median z-scores for birth length and head circumference were significantly lower for offspring of mothers with phenylalanine concentrations above 400 μmol/L than for those whose mothers had lower values (p=0·05 and p=0·005, respectively). The median intelligence quotient (IQ) of the offspring (3-27 years) was 100 for those whose mothers had higher phenylalanine concentrations and 108 for those of the lower phenylalaninaemia group. However, offspring IQ correlated slightly more closely with maternal IQ (
r=0·53, p<0·001) than with maternal phenylalanine concentration (
r=0·45, p=0·02).
Maternal MHP does not seem to have serious consequences for the fetus. A maternal phenylalanine concentration of less than 400 μmol/L does not warrant intervention. Nevertheless, maternal blood phenylalanine above this value is associated with slightly lower birth measurements and offspring IQ than lower maternal blood phenylalanine concentrations.</description><identifier>ISSN: 0140-6736</identifier><identifier>EISSN: 1474-547X</identifier><identifier>DOI: 10.1016/S0140-6736(94)90404-9</identifier><identifier>PMID: 7983992</identifier><identifier>CODEN: LANCAO</identifier><language>eng</language><publisher>London: Elsevier Ltd</publisher><subject>Adolescent ; Adult ; Biological and medical sciences ; Birth defects ; Birth Weight ; Blood ; Cardiovascular diseases ; Child ; Child, Preschool ; Data Collection ; Diseases of mother, fetus and pregnancy ; Female ; Fetuses ; Gynecology. Andrology. Obstetrics ; Head - anatomy & histology ; Humans ; Infant, Newborn ; Intelligence ; Medical disorders ; Medical research ; Medical sciences ; Mothers ; Offspring ; Phenylalanine - blood ; Pregnancy ; Pregnancy Complications ; Pregnancy Outcome ; Pregnancy. Fetus. Placenta ; Prenatal Exposure Delayed Effects ; Side effects</subject><ispartof>The Lancet (British edition), 1994-12, Vol.344 (8937), p.1589-1594</ispartof><rights>1994</rights><rights>1995 INIST-CNRS</rights><rights>Copyright Lancet Ltd. Dec 10, 1994</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c331t-23ee6e64df39941d530e575631b27aa2d5b6f1deb0a606a0af29c8ce9912f4eb3</citedby><cites>FETCH-LOGICAL-c331t-23ee6e64df39941d530e575631b27aa2d5b6f1deb0a606a0af29c8ce9912f4eb3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.proquest.com/docview/198977366?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995,64385,64387,64389,72341</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3425534$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7983992$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Levy, H.L</creatorcontrib><creatorcontrib>Waisbren, S.E</creatorcontrib><creatorcontrib>Lobbregt, D</creatorcontrib><creatorcontrib>Allred, E</creatorcontrib><creatorcontrib>Leviton, A</creatorcontrib><creatorcontrib>Schuler, A</creatorcontrib><creatorcontrib>Trefz, F.K</creatorcontrib><creatorcontrib>Schwietzer, S.M</creatorcontrib><creatorcontrib>Sardharwalla, I.B</creatorcontrib><creatorcontrib>Walter, J.H</creatorcontrib><creatorcontrib>Barwell, B.E</creatorcontrib><creatorcontrib>Berlin, C.M</creatorcontrib><title>Maternal mild hyperphenylalaninaemia: an international survey of offspring outcome</title><title>The Lancet (British edition)</title><addtitle>Lancet</addtitle><description>Summary
Maternal phenylketonuria (PKU) has adverse effects on the offspring including microcephaly, mental retardation, congenital heart disease, and intrauterine growth retardation. Maternal non-PKU mild hyperphenylalaninaemia (MHP) is believed to be benign, but whether there may be long-term consequences to offspring is unclear. In an international survey we have obtained information about 86 mothers with MHP (blood phenylalanine 167-715 μmol/L), their 219 untreated pregnancies, and 173 offspring.
Spontaneous fetal loss (13% of pregnancies), congenital heart disease (2·3% of offspring), and severe non-cardiac anomalies (2·9% of offspring) occurred at frequencies within expected limits for the general population. For weight and length at birth the median percentile was the 50th but that for birth head circumference was the 25th. Median z-scores for birth length and head circumference were significantly lower for offspring of mothers with phenylalanine concentrations above 400 μmol/L than for those whose mothers had lower values (p=0·05 and p=0·005, respectively). The median intelligence quotient (IQ) of the offspring (3-27 years) was 100 for those whose mothers had higher phenylalanine concentrations and 108 for those of the lower phenylalaninaemia group. However, offspring IQ correlated slightly more closely with maternal IQ (
r=0·53, p<0·001) than with maternal phenylalanine concentration (
r=0·45, p=0·02).
Maternal MHP does not seem to have serious consequences for the fetus. A maternal phenylalanine concentration of less than 400 μmol/L does not warrant intervention. Nevertheless, maternal blood phenylalanine above this value is associated with slightly lower birth measurements and offspring IQ than lower maternal blood phenylalanine concentrations.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Birth defects</subject><subject>Birth Weight</subject><subject>Blood</subject><subject>Cardiovascular diseases</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Data Collection</subject><subject>Diseases of mother, fetus and pregnancy</subject><subject>Female</subject><subject>Fetuses</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Head - anatomy & histology</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Intelligence</subject><subject>Medical disorders</subject><subject>Medical research</subject><subject>Medical sciences</subject><subject>Mothers</subject><subject>Offspring</subject><subject>Phenylalanine - blood</subject><subject>Pregnancy</subject><subject>Pregnancy Complications</subject><subject>Pregnancy Outcome</subject><subject>Pregnancy. Fetus. Placenta</subject><subject>Prenatal Exposure Delayed Effects</subject><subject>Side effects</subject><issn>0140-6736</issn><issn>1474-547X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1994</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqFkMuLFDEQh4Mo6-zqn7DQiIgeWpPOa-JFZFkfsCL4AG-hOl1xs3QnY9K9MP-9mQdz8CIU1KG-Kn71EXLJ6GtGmXrznTJBW6W5emnEK0MFFa15QFZMaNFKoX89JKsT8picl3JHKRWKyjNyps2aG9OtyLcvMGOOMDZTGIfmdrvBvLnFuB1hhBgi4BTgbQOxCXEPziHt6LLke9w2ydfyZZND_N2kZXZpwifkkYex4NNjvyA_P1z_uPrU3nz9-Pnq_U3rOGdz23FEhUoMviYRbJCcotRScdZ3GqAbZK88G7CnoKgCCr4zbu3QGNZ5gT2_IC8Odzc5_VmwzHYKxeFYc2NaitVqrbkWXQWf_QPepWX3c7HMrI2uflSF5AFyOZWS0dv61AR5axm1O-F2L9zubFoj7F64NXXv8nh86SccTltHw3X-_DiH4mD0GaIL5YRx0UnJRcXeHTCsxu4DZltcwOhwCBndbIcU_hPkL7w3nZQ</recordid><startdate>19941210</startdate><enddate>19941210</enddate><creator>Levy, H.L</creator><creator>Waisbren, S.E</creator><creator>Lobbregt, D</creator><creator>Allred, E</creator><creator>Leviton, A</creator><creator>Schuler, A</creator><creator>Trefz, F.K</creator><creator>Schwietzer, S.M</creator><creator>Sardharwalla, I.B</creator><creator>Walter, J.H</creator><creator>Barwell, B.E</creator><creator>Berlin, C.M</creator><general>Elsevier Ltd</general><general>Lancet</general><general>Elsevier Limited</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>0TT</scope><scope>0TZ</scope><scope>0U~</scope><scope>3V.</scope><scope>7QL</scope><scope>7QP</scope><scope>7RV</scope><scope>7TK</scope><scope>7U7</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88C</scope><scope>88E</scope><scope>88G</scope><scope>88I</scope><scope>8AF</scope><scope>8AO</scope><scope>8C1</scope><scope>8C2</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>AN0</scope><scope>ASE</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BEC</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FPQ</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K6X</scope><scope>K9-</scope><scope>K9.</scope><scope>KB0</scope><scope>KB~</scope><scope>LK8</scope><scope>M0R</scope><scope>M0S</scope><scope>M0T</scope><scope>M1P</scope><scope>M2M</scope><scope>M2O</scope><scope>M2P</scope><scope>M7N</scope><scope>M7P</scope><scope>MBDVC</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>S0X</scope><scope>7X8</scope></search><sort><creationdate>19941210</creationdate><title>Maternal mild hyperphenylalaninaemia: an international survey of offspring outcome</title><author>Levy, H.L ; Waisbren, S.E ; Lobbregt, D ; Allred, E ; Leviton, A ; Schuler, A ; Trefz, F.K ; Schwietzer, S.M ; Sardharwalla, I.B ; Walter, J.H ; Barwell, B.E ; Berlin, C.M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c331t-23ee6e64df39941d530e575631b27aa2d5b6f1deb0a606a0af29c8ce9912f4eb3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1994</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Birth defects</topic><topic>Birth Weight</topic><topic>Blood</topic><topic>Cardiovascular diseases</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Data Collection</topic><topic>Diseases of mother, fetus and pregnancy</topic><topic>Female</topic><topic>Fetuses</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Head - anatomy & histology</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Intelligence</topic><topic>Medical disorders</topic><topic>Medical research</topic><topic>Medical sciences</topic><topic>Mothers</topic><topic>Offspring</topic><topic>Phenylalanine - blood</topic><topic>Pregnancy</topic><topic>Pregnancy Complications</topic><topic>Pregnancy Outcome</topic><topic>Pregnancy. Fetus. Placenta</topic><topic>Prenatal Exposure Delayed Effects</topic><topic>Side effects</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Levy, H.L</creatorcontrib><creatorcontrib>Waisbren, S.E</creatorcontrib><creatorcontrib>Lobbregt, D</creatorcontrib><creatorcontrib>Allred, E</creatorcontrib><creatorcontrib>Leviton, A</creatorcontrib><creatorcontrib>Schuler, A</creatorcontrib><creatorcontrib>Trefz, F.K</creatorcontrib><creatorcontrib>Schwietzer, S.M</creatorcontrib><creatorcontrib>Sardharwalla, I.B</creatorcontrib><creatorcontrib>Walter, J.H</creatorcontrib><creatorcontrib>Barwell, B.E</creatorcontrib><creatorcontrib>Berlin, C.M</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>News PRO</collection><collection>Pharma and Biotech Premium PRO</collection><collection>Global News & ABI/Inform Professional</collection><collection>ProQuest Central (Corporate)</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Nursing & Allied Health Database</collection><collection>Neurosciences Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Healthcare Administration Database (Alumni)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Psychology Database (Alumni)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Lancet Titles</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest One Sustainability</collection><collection>ProQuest Central UK/Ireland</collection><collection>British Nursing Database</collection><collection>British Nursing Index</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>eLibrary</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>British Nursing Index (BNI) (1985 to Present)</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>British Nursing Index</collection><collection>Consumer Health Database (Alumni Edition)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>ProQuest Newsstand Professional</collection><collection>ProQuest Biological Science Collection</collection><collection>Consumer Health Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Healthcare Administration Database</collection><collection>Medical Database</collection><collection>Psychology Database</collection><collection>Research Library</collection><collection>Science Database</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biological Science Database</collection><collection>Research Library (Corporate)</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>SIRS Editorial</collection><collection>MEDLINE - Academic</collection><jtitle>The Lancet (British edition)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Levy, H.L</au><au>Waisbren, S.E</au><au>Lobbregt, D</au><au>Allred, E</au><au>Leviton, A</au><au>Schuler, A</au><au>Trefz, F.K</au><au>Schwietzer, S.M</au><au>Sardharwalla, I.B</au><au>Walter, J.H</au><au>Barwell, B.E</au><au>Berlin, C.M</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Maternal mild hyperphenylalaninaemia: an international survey of offspring outcome</atitle><jtitle>The Lancet (British edition)</jtitle><addtitle>Lancet</addtitle><date>1994-12-10</date><risdate>1994</risdate><volume>344</volume><issue>8937</issue><spage>1589</spage><epage>1594</epage><pages>1589-1594</pages><issn>0140-6736</issn><eissn>1474-547X</eissn><coden>LANCAO</coden><abstract>Summary
Maternal phenylketonuria (PKU) has adverse effects on the offspring including microcephaly, mental retardation, congenital heart disease, and intrauterine growth retardation. Maternal non-PKU mild hyperphenylalaninaemia (MHP) is believed to be benign, but whether there may be long-term consequences to offspring is unclear. In an international survey we have obtained information about 86 mothers with MHP (blood phenylalanine 167-715 μmol/L), their 219 untreated pregnancies, and 173 offspring.
Spontaneous fetal loss (13% of pregnancies), congenital heart disease (2·3% of offspring), and severe non-cardiac anomalies (2·9% of offspring) occurred at frequencies within expected limits for the general population. For weight and length at birth the median percentile was the 50th but that for birth head circumference was the 25th. Median z-scores for birth length and head circumference were significantly lower for offspring of mothers with phenylalanine concentrations above 400 μmol/L than for those whose mothers had lower values (p=0·05 and p=0·005, respectively). The median intelligence quotient (IQ) of the offspring (3-27 years) was 100 for those whose mothers had higher phenylalanine concentrations and 108 for those of the lower phenylalaninaemia group. However, offspring IQ correlated slightly more closely with maternal IQ (
r=0·53, p<0·001) than with maternal phenylalanine concentration (
r=0·45, p=0·02).
Maternal MHP does not seem to have serious consequences for the fetus. A maternal phenylalanine concentration of less than 400 μmol/L does not warrant intervention. Nevertheless, maternal blood phenylalanine above this value is associated with slightly lower birth measurements and offspring IQ than lower maternal blood phenylalanine concentrations.</abstract><cop>London</cop><pub>Elsevier Ltd</pub><pmid>7983992</pmid><doi>10.1016/S0140-6736(94)90404-9</doi><tpages>6</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0140-6736 |
| ispartof | The Lancet (British edition), 1994-12, Vol.344 (8937), p.1589-1594 |
| issn | 0140-6736 1474-547X |
| language | eng |
| recordid | cdi_proquest_miscellaneous_76873742 |
| source | MEDLINE; Business Source Complete; ScienceDirect Journals (5 years ago - present); ProQuest Central UK/Ireland |
| subjects | Adolescent Adult Biological and medical sciences Birth defects Birth Weight Blood Cardiovascular diseases Child Child, Preschool Data Collection Diseases of mother, fetus and pregnancy Female Fetuses Gynecology. Andrology. Obstetrics Head - anatomy & histology Humans Infant, Newborn Intelligence Medical disorders Medical research Medical sciences Mothers Offspring Phenylalanine - blood Pregnancy Pregnancy Complications Pregnancy Outcome Pregnancy. Fetus. Placenta Prenatal Exposure Delayed Effects Side effects |
| title | Maternal mild hyperphenylalaninaemia: an international survey of offspring outcome |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-08T05%3A49%3A07IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Maternal%20mild%20hyperphenylalaninaemia:%20an%20international%20survey%20of%20offspring%20outcome&rft.jtitle=The%20Lancet%20(British%20edition)&rft.au=Levy,%20H.L&rft.date=1994-12-10&rft.volume=344&rft.issue=8937&rft.spage=1589&rft.epage=1594&rft.pages=1589-1594&rft.issn=0140-6736&rft.eissn=1474-547X&rft.coden=LANCAO&rft_id=info:doi/10.1016/S0140-6736(94)90404-9&rft_dat=%3Cproquest_cross%3E8738862%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=198977366&rft_id=info:pmid/7983992&rft_els_id=S0140673694904049&rfr_iscdi=true |