Miscarriages

Domanda

A mother had a pregnancy that resulted in a miscarriage one year prior to the birth of her child with CdLS and another miscarriage in a subsequent pregnancy following the birth of her daughter. Should this be of concern if considering another pregnancy?

Risposta dei nostri esperti

No, fetuses with CdLS are not usually subject to spontaneous abortion and a history of such is not a common finding in families of children with CdLS. Chromosomal errors are far more likely to result in spontaneous abortion, especially early in gestation. In this case, if that is what is happening, it is likely to be a form of chromosomal error that results in early lethality. However, with two spontaneous abortions in a reproductive history, chromosomal studies of the parents may reveal an underlying cause and indicate the application of studies such as amniocentesis or CVS in succeeding pregnancies

In any case she should consider a PAPP-A and ultrasound at mid-trimester in her next pregnancy

LJ/TK 7-13-10

Approvato daClinical Advisory Board (CAB)

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Raccomandazione

Familial recurrence risk

Genetic counselling should be offered to all families with a family member with CdLS. Families should be counselled that the recurrence risk of CdLS differs depending on the gene involved. In the non-X-linked forms, the recurrence risk is 0.89% due to germline mosaicism. Autosomal dominant inheritance of CdLS does occur, meaning if one copy of the mutation is present, the individual will show clinical effects. In clinically diagnosed individuals with CdLS, the recurrence risk is 1.5%.

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Miscarriages

Domanda

Risposta dei nostri esperti

Raccomandazione

Disconoscimento legale

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