Professional Documents
Culture Documents
Amita Mahendru
Victoria De Giorgio-Miller
Alec McEwan
Abstract
Assessment of the unborn patient following the initial detection of a fetal
structural anomaly involves further detailed ultrasound scanning, usually
followed by other investigations to ascertain the extent of the abnormality, and to attempt to identify an underlying cause. Although many
congenital fetal anomalies are sporadic, some are associated with
maternal infections or medical disorders, such as diabetes, and others
are caused by underlying pathological genetic variants. As the understanding of the human genome advances, the proportion of idiopathic
congenital anomalies will decline. The new molecular technologies of
array hybridization and non-invasive prenatal diagnosis will move the
specialty of prenatal diagnosis into a new era in the very near future.
However, there will always be a place for careful history taking, as one
of the cases below illustrates.
Diagnosis of maternal disease following clinical assessment of fetal
anomalies allows maternal treatment in order to prevent progression of
disease, prevent further fetal consequences and may even have implications for the family and other siblings. Similarly, the diagnosis of genetic
disorders allows for focused earlier testing in future pregnancies, and may
also have wider implications for the family.
This journal has published a number of articles previously which use
case histories to illustrate the principles of prenatal diagnosis and management. This article adds three further cases. The details of the anomalies are less important than the processes by which the final diagnoses
were reached.
Introduction
279
CASE-BASED LEARNING
Absent sacrum
with abruptly
ending spine
280
CASE-BASED LEARNING
Abrupt ending of
the spinal cord
Hypoplastic S1
Figure 5 Skeletal X-ray of the newborn showing absence of the sacrum, coccyx and hypoplastic S1.
281
CASE-BASED LEARNING
Bladder
bulge
Figure 6 Sagittal view showing bladder bulge with cord insertion above it.
this condition. The neonate would require multiple major surgical reconstructions to correct the abnormalities of the urinary
system and genitalia over the first few years of the childs life.
These may have implications for continence, renal function and
genital appearance and function, particularly for a male child.
An amniocentesis was offered, but declined because of fears
of disrupting the pregnancy. The karyotype is normal in the vast
majority of cases of bladder exstrophy. However, the future
parents were very keen to learn the gender of the fetus before the
birth. Maternal blood was taken for free fetal DNA (ffDNA)
testing for fetal sex determination and this showed a male fetus.
They opted to continue with the pregnancy.
She had serial scans by the fetal medicine team which documented normal growth of the fetus and normal appearances of
the fetal kidneys. No other obvious fetal abnormalities were
detected on the scan. Labour was induced at 39 weeks and a
male infant of 3200 g was delivered by normal vaginal delivery.
He had bilateral inguinal hernias at birth and required bilateral
inguinal herniotomies. The surgery for bladder exstrophy is
performed in only two centres in UK (Manchester and Great
Ormond Street) who had been made aware of this baby well in
advance of the birth. Indeed, the family had been seen at Great
Ormond Street during the third trimester and received orientation
to the paediatric unit, and further sources of information.
282
CASE-BASED LEARNING
Bladder bulge
Figure 9 Left sided upper limb with humerus, absent radius and ulna and
hand attached to the humerus.
283
CASE-BASED LEARNING
284
CASE-BASED LEARNING
involves implications for the index pregnancy but also for other
siblings and future pregnancies.
Summary
There is an increased incidence of fetal structural abnormalities
in women with medical conditions such as poorly controlled
diabetes. Maternal diabetes may be diagnosed for the first time
during pregnancy on assessment of a fetal structural anomaly
and management would help to avoid further adverse maternal
or fetal outcomes. Apparently spontaneous fetal abnormalities
may have a genetic aetiology, and careful history and family
examination may give vital clues.
The management of many major fetal anomalies involves
additional investigations such as three-dimensional scan, invasive and non-invasive genetic diagnosis and other imaging modalities such as magnetic resonance imaging for fetal nervous
system and pulmonary assessment.
In counselling the couples with multiple or complex fetal
anomalies regarding prognosis for the pregnancy, multidisciplinary input from various teams such as neurosurgeons, paediatric surgeons, plastic surgeons, orthopaedic surgeons,
urologists, clinical genetics and paediatric radiologists is often
required. It is important therefore, that following initial detection
of the anomaly or anomalies the couple are given opportunities
to discuss and decide on the various management options
available to them.
A
Practice points
C
FURTHER READING
Firth H, Hurst J. Oxford desk reference clinical genetics. Oxford university
Press, 2012; 388e9.
Garne E, Loane M, Dolk H, et al. Spectrum of congenital anomalies in
pregnancies with pregestational diabetes. Birth Defects Res A Clin Mol
Teratol 2012; 94: 134e40.
Goyal A, Fishwick J, Hurrell R, Cervellione RM, Dickson AP. Antenatal
diagnosis of bladder/cloacal exstrophy: challenges and possible solutions. J Pediatr Urol 2012; 8: 140e4.
Sadler TW. Langmans medical embryology. 11th edn. Philadelphia Pa:
Lippincott Williams and Wilkins, 2010. 61e63 and 119.
285