Population-based trends in prenatal screening and diagnosis
Amniocentesis for fetal karyotyping:
the end of an era?
FEDERICO PREFUMO, BJOG SCIENTIFIC EDITOR, and ERIC JAUNIAUX,
BJOG SCIENTIFIC EDITOR
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E arly reports of amniocentesis date back
to the 1870s, when Prochownick,
Lambl and Schatz reported tapping amni-
otic fluid in cases of polyhydramnios. In
the 1950s and early 1960s Bevis in Man-
chester (J Obstet Gynaecol Br Emp
1952;59:857–9) and Liley in Auckland (N
Z Med J 1960;59:581–6) contributed to
define the role of amniocentesis in Rhesus
disease. Between 1955 and 1956 several
groups from Europe, Israel and the USA
demonstrated that it was possible to diag-
nose fetal sex in amniotic fluid cells from
Barr bodies.
In the late 1960s methods were devel-
oped to culture amniocytes and to use
culture cells for chromosomal and enzy-
matic diagnoses on the fetus. In 1970,
Butler and Reiss described the first ‘large’
series of second-trimester amniocenteses
in the UK, reporting on 25 women under-
Figure 1. A primary colony of small epithelial cells from amniotic fluid after
4 days in culture (9150) (from Butler LJ, Reiss HE. J Obstet Gynaecol Br
Commonw 1970;77:902–7).
ª 2015 Royal College of Obstetricians and Gynaecologists
going the procedure at Hackney Hospital,
London (J Obstet Gynaecol Br Commonw
1970;77:902–7). The women were admit-
ted to the antenatal or labour ward
because the outpatient clinic was consid-
ered unsafe to perform the procedure.
Fetal karyotype was obtained in 22 cases,
after an average time of 27 days and at a
cost of £30 per amniocentesis and karyo-
type (Figure 1). Third-trimester use of
amniocentesis in Rhesus disease had sug-
gested little if any effect on maternal fever
or onset of labour (Fairweather, Walker. J
Obstet Gynaecol Br Commonw 1964;71:48–
53). At that time, amniocentesis for fetal
karyotype was performed around mid-
gestation and without ultrasound guid-
ance, starting a debate about its safety
and in particular about the risks of direct
fetal hit and damage, secondary limb
deformities, abnormal lung maturation and
post-procedure loss. The amount of amni-
otic fluid withdrawn was empirically set at
15–20 ml, which was felt to be safe rela-
tive to the estimated total amniotic fluid
volume. However, it is only the use of
ultrasound-guided amniocentesis in the
1980s that made it a very safe procedure
during the first half of pregnancy.
The possibility of obtaining fetal karyotype
increased referrals to genetics clinics, but
also allowed the reassurance of most
women who were considered at high risk
for trisomy 21 (older mothers and those
with a previous affected child) or X-linked
disorders. The procedure soon gained
popularity for a number of medical and
cultural reasons. New developments in
maternal serum and ultrasound screening
have made it possible to offer all pregnant
women a noninvasive screening test to
assess their risk of having a fetus with
aneuploidy and to determine whether
invasive prenatal diagnostic testing is nec-
essary.
The paper by Hui et al. reports on four
decades of prenatal testing for fetal aneu-
ploidy in the Australian state of Victoria,
including 119 404 amniocenteses (Hui
et al. BJOG 2015;123:86–93). The study
demonstrates a decrease in the propor-
tion of women undergoing invasive testing
between 1976 and 2013. Increased access
to sequencing of cell-free DNA in mater-
nal circulation will certainly have an impact
on routine serum-based screening in the
general pregnant population. Within this
context, the use of amniocentesis will fur-
ther decrease and this well-established
technique may quickly become a tech-
nique of the past.
Disclosure of interests
None declared. Completed disclosure of
interests form available to view online as
supporting information. &
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