Notes in OG3.3 Fetal abnormalities and genetics

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Published	10/04/2024	Cell free DNA is used for:- {{c1::Identification of fetal blood group}}- {{c1::Determination of fetal sex}}- {{c1::Detection of chromos…
Published	10/04/2024	The quad screen is done in the {{c1::second}} trimester
Published	10/04/2024	The down syndrome combined screen is done in the {{c1::first}} trimester
Published	10/04/2024	The down syndrome combined screening screen uses {{c1::βhCG}} and {{c1::PPAP-A}} in combination with US to detect {{c1::nuchal translucency}…
Published	10/04/2024	In down syndrome serum βhCG {{c1::↑}}, and PPAP-A is {{c1::↓}}
Published	10/04/2024	Nuchal fold thickness, short femur, renal dilatation, hypoplasia of middle phalanx of 5th finger, and sandal gap between toes of feet are all {{c…
Published	10/04/2024	Prenatal diagnosis of edward and patau syndrome is done by {{c1::CVS/amniocentesis}}
Published	10/04/2024	The most common cause of male hypogonadism is {{c1::klinefelter's syndrome}}
Published	10/04/2024	Chorionic villus sampling is performed at {{c1::11 - 14::range}} weeks
Published	10/04/2024	Amniocentesis is done at {{c1::15 weeks}}
Published	10/04/2024	{{c1::Chorionic villus sampling::Chorionic villus sampling/amniocentesis}} has a higher risk of miscarriage
Published	10/04/2024	A 4 chamber view of the heart is possible starting at {{c1::18}} weeks
Published	10/04/2024	Congenital heart defect seen on prenatal ultrasound → {{c1::check for extracardiac malformations::next best step}}
Published	10/04/2024	90% of NTDs are detectable prenatally using ultrasound at {{c1::16 - 20::range}} weeks
Published	10/04/2024	Intracranial signs of spina bifida include:- {{c1::A banana shaped cerebellum}}- {{c1::A lemon-shaped appearance of the cranium}}
Published	10/04/2024	{{c1::Polyhydramnios}} complicates over 50% of cases of spina bifida
Published	10/04/2024	Prenatal diagnosis of neural tube defect {{c1::should not::should/should not}} alter the timing of delivery
Published	10/04/2024	All neonates with a prenatal diagnosis of hydronephrosis are commenced on {{c1::prophylactic antibiotics}}
Published	10/04/2024	The long term prognosis for posterior urethral valves is {{c1::poor}}
Published	10/04/2024	{{c1::2-3::range}}% of births have major birth defects
Published	10/04/2024	Prevalence of Down Syndrome - 1 in {{c1::660}} live births
Published	10/04/2024	Incidence of Trisomy 18/Edwards syndrome = 1 in {{c1::3000}}
Published	10/04/2024	Incidence of Trisomy 13/Patau syndrome = 1 in {{c1::5000}}
Published	10/04/2024	Cell free DNA is a {{c1::non-invasive}} screening test that requires a blood sample from mom at {{c1::9}}+ weeks. It {{c1::IS NOT::is or is not}} diag…
Published	10/04/2024	Prevalence of congenital heart disease = {{c1::8}} in 1000 live births
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