Table 1.

Reproductive Investigations Available to Women at Risk of Having a Child With Hemophilia.^a

Option	Pregnancy Risks	Timing	Information Provided/Other Details
In-vitro fertilization with preimplantation genetic diagnosis18	May not result in pregnancy	Before implantation	Sex and genetic status Consider confirmatory chorionic villus sampling or amnio in pregnancy May not be available in all centers
No investigation	None	N/A	None Manage pregnancy, delivery, and newborn as if affected until diagnosis is confirmed
Noninvasive prenatal testing12,19	None to pregnancy; same as any blood draw	After 10 weeks gestation	Currently provides sex only Can provide information about common chromosomal aneuploidies
Chorionic villus sampling19,20	Bleedingb 0.5%-1%c risk of miscarriage	After 10 weeks	Sex and genetic status
Amniocentesis19,20	Bleedingb 0.5%-1%c risk of miscarriaged or preterm deliverye	After 15 weeks	Sex and genetic status
Routine second trimester obstetrical ultrasound21	None	18-22 weeks	Sex only Results are not definitive
First trimester ultrasound22	None	After 13 weeks	Sex only Biparietal diameter must be >22 mm to ensure accuracy (99.5%)

Abbreviation: HTC, Hemophilia Treatment Center.

^aGenetic testing is only available if familial F8 or F9 mutation is known. Genetic testing occurs once male sex is established (see Figure 1).

^bThe risk of bleeding complications for mothers who are carriers with low factor levels should be assessed and managed in cooperation with the woman’s HTC.^12,17

^cCurrent literature suggests the risks associated with chorionic villus sampling and amniocentesis may be lower than is stated here.^23,24

^dFor early amniocentesis, in the first or second trimester.

^eFor late amniocentesis, in the third trimester.