Non-invasive prenatal diagnosis and screening for monogenic disorders von Scotchman, E., Shaw, J., Paternoster, B., Chandler, N., Chitty, L.S.

Volltext

Non-Invasive Prenatal Testing for Down’s Syndrome: Pregnant Women’s Views and Likely Uptake von Lewis, C., Silcock, C., Chitty, L.S.

Volltext

Non-invasive prenatal diagnosis for single gene disorders: experience of patients von Lewis, C., Hill, M., Chitty, L.S.

Volltext

OC06.03: The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart defects: a systematic review and meta‐analysis von Reilly, K.M., Sonner, S., Mccay, N., Rolnik, D.L., Casey, F., Seale, A.N., Watson, C., Chitty, L.S., Mone, F.

Volltext

Fetal hydrops and the Incremental yield of Next‐generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta‐analysis von Mone, F., Eberhardt, R. Y., Hurles, M. E., Mcmullan, D. J., Maher, E. R., Lord, J., Chitty, L. S., Dempsey, E., Homfray, T., Giordano, J. L., Wapner, R. J., Sun, L., Sparks, T. N., Norton, M. E., Kilby, M. D.

Volltext

P30.03: Ventriculomegaly at 11–14 weeks: diagnostic criteria and outcome von Ushakov, F., Chitty, L.S.

Volltext

In case you missed it: The Prenatal Diagnosis editors bring you the most significant advances of 2019 von Chitty, L.S, Hui, L, Ghidini, A, Levy, B, Deprest, J, Van Mieghem, T, Bianchi, D.W

Volltext

OC09.07: Boost brittle bones before birth (BOOSTB4): a clinical trial of prenatal stem cell transplantation for treatment of osteogenesis imperfecta von Lindgren, P., Chitty, L.S., David, A., Ek, S., Ekblad Nordberg, A., Goos, A., Kublickas, M., Oepkes, D., Sagar, R., Verweij, J., Walther‐Jallow, L., Westgren, M., Astrom, E., Götherström, C., Consortium, BOOSTB4

Volltext

OC11.09: Congenital heart disease and the diagnostic yield with exome sequencing (CODE Study): a prospective cohort study and systematic review von Mone, F., Eberhardt, R., Morris, R.K., Hurles, M.E., McMullan, D.J., Maher, E.R., Lord, J., Chitty, L.S., Giordano, J., Wapner, R.J., Kilby, M.D.

Volltext

OP08.09: Rapid whole exome sequencing for the prenatal diagnosis sonographic abnormalities von Drury, S., Edwards, S., Jenkins, L., Chitty, L.S.

Volltext

OC06.02: Expanding analysis of cell‐free DNA to deliver safe, accurate, speedy diagnosis of skeletal dysplasias and other monogenic disorders von Mason, S., Moore, S., McKay, F., Drury, S., Jenkins, L., Chitty, L.S.

Volltext

EP21.04: BOOSTB4: a clinical study to determine safety and efficacy of pre‐ and/or postnatal stem cell transplantation for treatment of osteogenesis imperfecta von Chitty, L.S., David, A.L., Gottschalk, I., Oepkes, D., Westgren, M., Götherström, C., Consortium, O.

Volltext

Prenatal diagnosis of cloacal anomalies von Warne, S., Chitty, L.S., Wilcox, D.T.

Volltext

Prenatal gender determination and the diagnosis of genital anomalies von Pajkrt, E., Chitty, L.S.

Volltext

“I’m quite proud of how we’ve handled it”: health professionals’ experiences of returning additional findings from the 100,000 genomes project von Stafford-Smith, B, Gurasashvili, J, Peter, M, Daniel, M, Balasubramanian, M, Bownass, L, Brennan, P, Cleaver, R, Clowes, V, Costello, P, DeSouza, B, Dubois, L, Harrison, R, Hawkes, L, Jones, E.A, Kraus, A, McEntagart, M, Somarathi, S, Taylor, A, Tripathi, V, Chitty, L.S, Hill, M

Volltext bestellen

Diagnostic accuracy of post-mortem MRI for thoracic abnormalities in fetuses and children von Arthurs, O.J, Thayyil, S.E, Olsen, O.E, Addison, S, Wade, A, Jones, R, Norman, W, Scott, R.J, Robertson, N.J, Taylor, A.M, Chitty, L.S, Sebire, N.J, Owens, C.M, Magnetic Resonance Imaging Autopsy Study (MaRIAS) Collaborative

Volltext bestellen

Post mortem magnetic resonance imaging in the fetus, infant and child: a comparative study with conventional autopsy (MaRIAS Protocol) von Thayyil, S, Sebire, N.J, Chitty, L.S, Wade, A, Olsen, O, Gunny, R.S, Offiah, A, Saunders, D.E, Owens, C.M, Chong, W.K, Robertson, N.J, Taylor, A.M

Volltext bestellen

Multicentre study of antenatal calyceal dilatation detected by ultrasound von Chittty, L.S., Pembrey, M.E., Chudleigh, P.M., Campbell, S.

Volltext