Significant advances in the prenatal diagnosis of hereditary skin disorders, including severe forms of epidermolysis bullosa (EB) and tyrosinase-negative oculocutaneous albinism (OCA1A), have been reviewed. Fetal skin biopsy during the second trimester of pregnancy has been utilized successfully for the prenatal diagnosis of EB and OCA1A. Recently, elucidation of the specific gene mutation in a...

OBJECTIVES To evaluate the prenatal detection of transposition of the great arteries (TGA), after the introduction of a Dutch screening program in 2007, as well as the effect of prenatal detection on pre- and postsurgical mortality and morbidity. METHODS In a geographical cohort study, all infants with TGA who were born between 1 January 2002 and 1 January 2012 were included. The cases were d...

Answer: I have revised the title to “Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC”, as the reviewer recommended to make it more accurate and concise. As the reviewer pointed out, the technique used in our study was standard methodology for chorionic villi sample-based prenatal genetic diagnosis. It is not a new prenatal diagnostic technique either...

t u e t Noninvasive prenatal diagnosis using cell-free fetal DNA in the maternal plasma is moving into routine clinical practice for some indications. Here we discuss exciting developments in noninvasive prenatal diagnosis for aneuploidy afforded by recent publications, including 2 papers published in this journal, and highlight some of the issues that need to be considered before these tests c...

Methods We reviewed all subsequent cases referred for an anechoic abdominal cyst from 2009 to 2013. Prenatal US was compared to postnatal diagnosis (imaging or surgery). The prenatal diagnosis was defined as 'correct' if a specific prenatal diagnosis or one of the possible diagnoses was confirmed postnatally, as 'not confirmed' if the postnatal examination revealed no abnormalities and as 'inco...

Received 24 May 2007 Accepted 24 May 2007 Tom Shakespeare’s book Disability rights and wrongs is very rich and interesting and ought to be compulsory reading for anyone interested in the relation between disability and medical ethics. In my short contribution to this symposium on the book, I will focus on a particular aspect of his discussion of prenatal diagnosis and termination of pregnancy. ...

Fetal bowel dilatation is an indirect sonographic sign of mechanical or functional bowel obstruction. The etiology of fetal bowel dilatation is a difficult prenatal diagnosis since ultrasound has limited accuracy for bowel evaluation. The authors describe a case of fetal bowel dilatation diagnosed in the third trimester.

OBJECTIVE To investigate pregnant women's level of future interest in noninvasive prenatal diagnosis (NIPD) and what factors might affect expected uptake of this testing. METHOD Written questionnaires were administered to women in their third trimester. RESULTS One hundred fourteen women returned the questionnaire (80.9% response rate). Of these, 71.9% reported interest in NIPD, 22.7% were ...