Hypoplastic nasal bone: A potential marker for facial dysmorphism associated with pathogenic copy number variants on microarray

Objectives To compare the frequency of abnormal genetic diagnoses spanning a period before and after the availability of chromosomal microarray analysis (CMA). We hypothesised that microarray would provide additional clinically relevant information in cases of isolated hypoplastic nasal bone. Method...

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Veröffentlicht in:	Prenatal diagnosis 2019-01, Vol.39 (2), p.116-123
Hauptverfasser:	Gu, Ying Zhi, Nisbet, Deborah L., Reidy, Karen L., Palma‐Dias, Ricardo
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Chromosome Aberrations - embryology Chromosome Disorders - diagnosis Chromosome Disorders - embryology Craniofacial Abnormalities - diagnosis DNA Copy Number Variations - genetics Female Genetic Testing - methods Gestational Age Humans Microarray Analysis Nasal Bone - abnormalities Nasal Bone - diagnostic imaging Pregnancy Pregnancy Trimester, Second Pregnancy Trimester, Third Prenatal Diagnosis - methods Retrospective Studies Trisomy - diagnosis Trisomy - genetics Ultrasonography, Prenatal
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Zusammenfassung:	Objectives To compare the frequency of abnormal genetic diagnoses spanning a period before and after the availability of chromosomal microarray analysis (CMA). We hypothesised that microarray would provide additional clinically relevant information in cases of isolated hypoplastic nasal bone. Method Fetuses with ultrasound‐detected hypoplastic nasal bone (absent or
ISSN:	0197-3851 1097-0223
DOI:	10.1002/pd.5410