Pregnancy & Perinatal
Case Studies (links
to other case studies can be found at the bottom of this page.) Tom
and Louise are a couple who have already had 2 miscarriages. No cause has
been found for these pregnancy losses that occurred at 8 and 12 weeks gestation.
Louise is now 19 weeks pregnant in her third pregnancy and has had fetal
movements. She decided to have a maternal serum screening test in this pregnancy
and because a risk of 1 in 150 of the foetus having Down syndrome in this
pregnancy, she and Tom decided to have an amniocentesis. The amniocentesis
has shown that the foetus has a chromosome pattern of 47, XYY. Tom and Louise
are given this result by the genetic nurse specialist. They are told that
many children with this pattern have no physical problems, although some
of the children do have behaviour problems. Louise
is keen to continue the pregnancy. She cannot bear to terminate and lose
a baby she already feels is very much alive and part of the family. Tom,
however, feels the pregnancy is spoilt for him now he knows the baby is not ‘normal’. They are
referred to a paediatrician to discuss the prognosis for the child, and return
for another discussion with the genetic nurse. Finally, Louise reluctantly
agrees to the termination because she feels that Tom will never accept the
baby and her marriage will break up if she continues with the pregnancy. Emily
is 12 weeks pregnant with her first child. At an early appointment with her
midwife she mentions that her aunt has a child with Down syndrome. She is
very worried
about her
own
unborn baby. Sivia is a young woman who has had her first pregnancy
confirmed. She considers herself very healthy, having no major illnesses
in the past other than an appendectomy at the age of 14 years, from which
she quickly recovered. At 26, she is looking forward to having her first
child. At her first meeting with Sivia, the midwife goes
through the basic booking procedures, asking Sivia about her own medical
history and any relevant family history. Sivia replies that the only unusual
thing about her family is their double-jointedness! Laughing, she demonstrates
her flexible hand and fingers. When the midwife is taking a routine blood sample
she notices some old bruising on Sivia's arms and comments on this. Sivia
replies that she bruises easily, like her father. The midwife is aware that a combination of unusual
features could indicate an underlying genetic condition affecting connective
tissue, and telephones the local genetics nurse to ask if there is reason
for concern. The Genetics nurse raises the possibility that Sivia has some
form of connective tissue disorder and suggests she be referred for assessment
by the medical geneticist as some types of these disorders could result in
serious complications during pregnancy, including uterine rupture. The midwife
calls to see Sivia and explains that her flexible joints and bruising could
be due to a genetic condition, so that the midwife would like to refer her
for a genetic assessment. Obviously Sivia is anxious about this and the genetics
appointment is made as soon as possible. After detailed discussion of the family history,
and examination of both Sivia and her parents, the geneticist concludes that
Sivia has one form of Ehlers Danlos syndrome, but not a type that would predispose
her to serious complications in pregnancy. Sivia is given appropriate information
about the inheritance risks and is discharged by the geneticist, with summary
letters to her, the midwife and the obstetrician. However, because of her
tendency to bruise easily, her haemoglobin is carefully monitors throughout
her pregnancy. Sivia had a normal delivery of a healthy son.
Mara is a woman of 35 years of age. She is a lawyer in a very competitive field, and she and her husband have delayed having a family because she felt that she needed to establish her career first.
Mara discusses her own medical history with her midwife and GP when the pregnancy is confirmed. She has not had any previous surgery but was prescribed iron tablets once in the past because of some menorrhagia. She has been very conscious of making sure her diet is high in iron since that time and when her haemoglobin is checked, it is within normal limits. For
Mara, the pregnancy proceeds very normally. She has maternal serum screening
for Down syndrome and is told her fetus is at low risk of having Down syndrome.
There are no unusual features found on the fetal anomaly scan she has at
19 weeks gestation.
At 39 weeks Mara spontaneously goes into labour and after a labour of about 9
hours delivers a girl. She has a small second degree perineal tear, which
bleeds profusely. Despite a straightforward third stage, Mara has a heavy
uterine blood loss and the midwife is concerned as there is no obvious reason
for her continued blood loss. The
obstetrician is called and orders a number of tests, including a clotting
screen. A blood transfusion is given to stabilise
Mara’s condition. After a number of laboratory tests, including assays for the von Willebrand factor, Mara is found to have von Willebrand disease Type 1.
Mara subsequently recovers quickly. Her family are referred to the regional Haemophilia Care Centre for expert advice and further testing. Mara’s daughter is tested and she has not inherited the condition. However, Mara’s younger sister is affected; this diagnosis enables her to access appropriate care in her own pregnancies.
1.
Tom & Louise.
2.
Emily.
3. Sivia
4. Mara
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