In the group studied, the spontaneous miscarriage rate from nine weeks gestation is very high (8.4%). The procedure-related loss rate from amniocentesis was less than 1 in 280. Transabdominal CVS appears to have a lower fetal loss rate than transcervical CVS, but much larger numbers are needed to prove this.

Key Clinical messageCase report involving a normal female by NIPT with male external genitalia on routine fetal morphology assessment. QF-PCR, CGH microarray, and FISH revealed an unbalanced translocation, involving the short arms of the X and Y chromosomes. This case demonstrates the possible limitations of correctly identifying sex chromosome abnormalities via NIPT.

Ovarian cancer is rarely diagnosed during assisted reproduction. Several case-control and cohort studies have described its incidence within the infertile population well after the assisted reproductive process. We present a case of endometrioid adenocarcinoma that developed during the ovarian stimulation process and show corresponding ultrasound images of its development.

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