Follow-up of a child with trisomy 17 mosaicism

status: publishe

Trisomy 18 presenting with severe limb deformations

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Triploidy: 109 prenatal diagnoses

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Preconception care

A good pregnancy outcome is partly determined by a women's preconceptional health and healthy lifestyle. The access to prenatal care is good nowadays but the incidence of congenital malformations, preterm births, low birth weight and maternal mortality has not significantly declined over the years. Although most women of reproductive age have a gynecological examination every two years in Belgium, they are not often counseled before starting a pregnancy. The American College of Obstetricians and Gynecologists (ACOG) states that optimizing a woman's health before and between pregnancies must be an ongoing process. The most vulnerable period for fetal defects is between 4 and 10 weeks of gestation, the period of embryogenesis, meaning that counseling for a healthy life style and reducing high-risk conditions should start preferably before conception.status: publishe

Allo-immune thrombocytopaenia

This case report describes the prenatal diagnosis of an intracranial haemorrhage due to allo-immune thrombocytopaenia (AITP) with HPA-1b incompatibility. In this family, a previous child had died neonatally with a presumed diagnosis of schizencephaly. Severe open-lip schizencephaly can be difficult to differentiate from destructive brain lesions due to intracranial haemorrhage, but a correct diagnosis is important due to the high recurrence risk and more severe manifestations in subsequent pregnancies with AITP. © British Medical Ultrasound Society 2008.status: publishe

A case of holoprosencephaly and 13q deletion

status: publishe