Call the Midwife is back for its 12th season and so are the faculty of the Vanderbilt University School of Nursing to provide historical and contemporary context in a weekly recap blog. Watch the show Sundays at 7 p.m. through May 7. SPOILER ALERT: Some posts may contain plot details.
I recently spent a sunny afternoon chatting with an 85-year-old man while we cheered on an elementary school track team. When he discovered I was a nurse-midwife, he told me about his wife’s second pregnancy. No one recognized that it was a twin pregnancy until the second baby began to crown. This father was outside the delivery room, expecting one baby until the doctor congratulated him on his two new sons. These twins are just a few years older than me, and their birth was dramatically different from today’s pregnancies.
When contemporary mothers arrive at the hospital in labor, they certainly know that it’s a singleton pregnancy. They often know the baby’s sex, size, position and sometimes his or her chromosomal makeup. They call the baby by name. Technology allows modern parents to know a lot about a fetus long before it’s in arms. But hemophilia can still surprise new parents just as it surprised Lorna Pryce in this week’s episode.
We meet Lorna late in her second pregnancy, flanked by her devoted mother and toddler daughter. Her labor begins spontaneously and proceeds normally until the baby’s malposition requires forceps for birth. Baby boy Ian develops a cephalohematoma, a bruise under the scalp that sometimes follows a forceps delivery. It’s only when more bruising develops that Dr. and Mrs. Turner recognize that something is seriously wrong with the newborn. Under care of the hospital pediatrician, Ian is diagnosed with hemophilia, inherited from his grandfather whose own disease caused his early death.
Hemophilia is a rare genetic blood clotting disorder linked to the X chromosome. In a case like this, the mother inherits the mutation from her father, then passes it on to her children. Assuming Lorna’s husband does not have hemophilia, each of their sons has a 50% chance of inheriting the disease and each daughter has a 50% chance of being an asymptomatic carrier. These days we know far more about hemophilia: We know which genetic mutations cause the multiple variations of this clotting disorder; how to use lab tests to measure disease severity; how to treat the disease with multiple medications. But we still can’t always anticipate the diagnosis. Sometimes that’s because the family history is unknown and occasionally it’s because hemophilia is the result of a new genetic mutation rather than an inherited one.
Genetic testing in pregnancy is common, almost ubiquitous, but hemophilia isn’t included in routine testing: We don’t test parents to see if they are carriers, nor do we test the fetus to know if he has the disease. So a mother in 2023 can have the same experience as Lorna Pryce in 1968: the slow revelation of symptoms, evaluation, diagnosis.
If I did know that a patient was a carrier of hemophilia, I’d recommend that she find out the baby’s sex by ultrasound or genetic screening. We’d loop in genetic and pediatric specialists for expert guidance. We’d assume a boy had hemophilia and plan the delivery accordingly: avoid forceps or vacuum assistance, avoid invasive fetal monitoring, move to cesarean birth if the pushing stage of labor is lengthy. We’d have IV clotting factor available for the newborn and pediatricians at the ready. We’d recommend against circumcision and be careful with routine needlesticks. But kids born with hemophilia today still face a lifelong medical complication and reduced life expectancy, like baby Ian. Let’s hope for transformative technological advances in the treatment and cure of this disease.
Kate Virostko, MSN, CNM, is a member of the Vanderbilt Nurse-Midwives & Primary Care for Women at Melrose, the clinical practice of the Vanderbilt University School of Nursing.