Prenatal diagnosis of oral-facial-digital syndrome, type I.

Oral-facial-digital syndrome with vaginal atresia, hydronephrosis and congenital cardiac defect

“…Meinecke and Hayek [13] described a fetus with OFDS IV with anorchidism, anal atresia, and absent ureters and bladder. Shipp et al [14] reported on a 22-week-old fetus with micropenis and hypospadias. This patient was diagnosed prenatally by sonography as possible OFDS IV.…”

An extremely rare case of Oro‐facial digital syndrome: A case report

“…This can be done by analyzing DNA extracted from foetal cells obtained by amniocentesis (typically performed at 15–18 weeks gestation) or chorionic villus sampling (typically performed at 10−12 week gestation) 17 . If the fetus is male there are increased chances of miscarriage whereas if it is a female then molecular genetic testing can be done to identify the chances of having OFD 19 . In pregnancy of a female affected by OFD, prenatal ultrasound examination can be done to detect any neural abnormality in the fetus and counselling to be done to make the parents aware of the situation and to prepare them to deal with it 6,19 .…”

“…17 If the fetus is male there are increased chances of miscarriage whereas if it is a female then molecular genetic testing can be done to identify the chances of having OFD. 19 In pregnancy of a female affected by OFD, prenatal ultrasound examination can be done to detect any neural abnormality in the fetus and counselling to be done to make the parents aware of the situation and to prepare them to deal with it. 6,19 It also helps the clinician to anticipate the situation and prepare a treatment plan beforehand so that chances of mis-handling with the patient can be reduced.…”

Oral–facial–digital syndrome type 1: a review

“…If the fetal karyotype is 46 XY, counselling should include discussion of the increased risk of miscarriage of affected males. If the foetus is found to be female, molecular genetic testing can be offered 33 . In pregnancies not known to be at increased risk for OFD1, the findings of structural brain anomalies and unilateral polydactyly of the great toe (duplicated hallux) should lead to consideration of OFD1.…”