Subject(s)
Nasal Bone , Ultrasonography, Prenatal , Female , Fetus , Humans , Microarray Analysis , Pregnancy , Pregnancy Trimester, SecondABSTRACT
We report a dichorionic twin pregnancy in which both fetuses were affected by a similar pattern of multiple abnormalities. The afrocaribbean parents had a history of infertility, and the pregnancy was conceived using in vitro fertilisation with donor sperm. The features seen in the fetuses do not fit any previously described disorder well. We discuss the differential diagnoses and suggest that this may be an autosomal recessive disorder which has not been previously described.
Subject(s)
Abortion, Legal , Diseases in Twins , Polycystic Kidney Diseases/diagnosis , Spine/abnormalities , Female , Fertilization in Vitro , Humans , Pregnancy , Prenatal Diagnosis , SyndromeABSTRACT
We report six cases of Noonan syndrome which presented prenatally with sonographic abnormalities. These included increased nuchal fluid, short femora, pleural effusions, hydrops, cardiac and renal abnormalities. A review of all cases of Noonan syndrome seen at two regional genetics centres confirms the association with these sonographic abnormalities. These cases demonstrate the diversity of prenatal presentation of Noonan syndrome and highlight the need to consider this diagnosis, particularly when faced with a fetus with a normal karyotype and varying degrees of oedema or hydrops, with a short femur length.
Subject(s)
Fetal Diseases/diagnostic imaging , Noonan Syndrome/diagnostic imaging , Ultrasonography, Prenatal , Adult , Edema/diagnostic imaging , Female , Femur/abnormalities , Femur/diagnostic imaging , Gestational Age , Heart Defects, Congenital/diagnostic imaging , Humans , Hydrops Fetalis/diagnostic imaging , Kidney/abnormalities , Kidney/diagnostic imaging , Male , Neck/diagnostic imaging , Pleural Effusion/diagnostic imaging , PregnancyABSTRACT
We present 16 cases, 10 de novo and 6 familial, in which extra structurally abnormal chromosomes (ESACs) were diagnosed prenatally and identified by fluorescence in situ hybridization (FISH) studies with follow up from birth. We review the literature on prenatally diagnosed ESACs arising de novo and suggest a management protocol for these cases.
