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Genetic Analysis of Malformations Causingperinatal Mortality J Med Genet: first published as 10.1136/jmg.23.1.58 on 1 February 1986. Downloaded from Journal of Medical Genetics 1986, 23, 58-63 Genetic analysis of malformations causing perinatal mortality I D YOUNG*, A B RICKETT*, AND M CLARKEt From the Departments of Child Health* and Community Healtht, University of Leicester, Leicester LE2 7LX. SUMMARY An analysis of congenital malformations, other than neural tube defects, which have contributed to perinatal mortality in Leicestershire is presented for the years 1976 to 1982 inclusive. Chromosomal, single gene, or polygenic inheritance accounted for 67% of cases. Several studies have indicated that congential mal- All perinatal deaths in the county are notified to formations account for a substantial proportion of the midwife who co-ordinates the survey. Sub- babies dying in the neonatal and perinatal periods. 1-3 sequently the mother is interviewed and a question- As other causes of perinatal death continue to be naire completed. Data are cross checked by reduced, attention will focus increasingly on the reference to the Area Health Authority's notifica- group of babies with congenital malformations, and tion system of births and deaths and also by in particular on those other than neural tube defects, obtaining information provided to the Registrar which are unlikely to be amenable to detection General through certification. copyright. through relatively simple prenatal diagnostic For the purposes of the present study attempts screening. were made to review the original hospital records of A comprehensive survey of perinatal mortality all malformed babies ascertained through the Pern- was initiated in Leicestershire in 1976.4 5 The natal Mortality Survey, along with necropsy reports, present study was undertaken (1) to review the radiographs, and clinical photographs. spectrum of malformations, other than neural tube Babies were only included in the study if it was defects, which result in perinatal death; (2) to clear from their records that death was due primarily http://jmg.bmj.com/ determine the proportion of malformations in which to a malformation. Thus, babies who probably died genetic factors are implicated; (3) to consider ethnic as a result of problems associated with prematurity differences, since it is known that lethal congenital or birth asphyxia, but who also had a relatively malformations are more common in Asians than in minor malformation such as a small ventricular non-Asians in Leicestershire6; and (4) to consider septal defect, were excluded. In three babies the the theoretical potential effect on perinatal mortality cause of death was ascribed to congestive cardiac of a vigorous prenatal diagnostic programme. failure associated with a large patent ductus arteriosus and, although a patent ductus can be on September 30, 2021 by guest. Protected Methods regarded as physiological in the newborn, the sequence of events in these babies was not consistent Details of all malformed babies, other than those with normal physiological variation. Consequently with isolated neural tube defects, dying during the they have been included in the study. perinatal period in Leicestershire in the years 1976 to 1982 inclusive were obtained from the records of Results the Leicestershire Perinatal Mortality Survey. This ongoing survey, which has been described in detail elsewhere,4 records information about all babies ANALYSIS OF LETHAL MALFORMATIONS dying in the perinatal period. The survey is organised During the years 1976 to 1982 inclusive, 147 babies through the Department of Community Health in died during the perinatal period in Leicestershire as collaboration with the Department of Obstetrics and the result of congenital abnormality, excluding Gynaecology. isolated neural tube defects. The perinatal mortality Received for publication 23 October 1984. rate fell during this time from 21-1 per 1000 in 1976 Revised version accepted for publication 2 Jitnuarv 1985. to 11-2 per 1000 in 1982. However, the number of 58 J Med Genet: first published as 10.1136/jmg.23.1.58 on 1 February 1986. Downloaded from Genetic analysis of malformations causing perinatal mortality 59 babies dying as the result of malformation remained TABLE 3 Study babies with single system involvement. 1. relatively constant, as indicated in table Cardiac It was possible to review the hospital records of Hypoplastic left heart 8 141 of the 147 babies in the study, 108 of whom had Pulmonary atresia 3 Transposition of the great vessels 2 undergone necropsy. Chromosome analysis had Coarctation of the aorta 2 been attempted in 48 of these babies, successfully in Patent ductus arteriosus 3 Total anomalous pulmonary venous drainage I 39 instances. Clinical photographs of 18 babies were Isomerism I available for review. A total of 119 babies was Persistent fetal circulation Type unknown 1 liveborn and 22 stillborn. Complex 9 Total 31 Chromosomal abnormalities (24 babies) Renal An abnormal karyotype was detected in 23 babies, Bilateral agenesis 8 as summarised in table 2. This table includes one Polycystic/dysplastic kidneys 4 Urethral obstruction 2 additional baby for whom a chromosome result was Total 14 not obtained. The clinical features were consistent and studies Pulmonary with Patau's syndrome subsequent Diaphragmatic hernia/agenesis I() showed a maternal karyotype of 45,XX,t(13q;14q). Pulmonary hypoplasia This karyotype was also found in the mother of a Total unbalanced Robertsonian trans- baby with a proven Gastrointestinal 11 location, 46,XY,-14,+t(13q;14q). Details of the Gastroschisis Exomphalos child with trisomy 9 have been published elsewhere.7 Achalasia The father of one of the babies with trisomy 18 had a Total 3 21 from a child with trisomy previous marriage. Cerebral Iniencephaly '5 Lissencephaly Single system involvement (73 babies) copyright. Holoprosencephaly/cyclops Those babies showing a malformation or dysplasia Total affecting primarily a single system are summarised Skeletal in table 3. Osteogenesis imperfecta congenita 3 Campomelic dysplasia 9 Saldino-Noonan syndrome 1 Thanatophoric dysplasia l Other 3 TABLE 1 Perinatal deaths due to malformations in Total 9 Leicestershire 1976 to 1982. http://jmg.bmj.com/ Year Malformed Total Total Malformed perinatal deaths perinatal births deaths per (excluding NTD) deaths 1000 Cardiac (31 babies) In 25 cases the diagnosis was 1976 18 230 10 875 1-66 confirmed at necropsy, which was refused in the 1977 24 190 10 835 222 remaining six cases. The diagnosis was based on 1978 23 196 11 06(0 2-08 1979 23 172 11 754 1-96 catheter or echocardiograph studies in five babies. 1980 22 151 12346 1 78 The one remaining baby died before a precise 1981 21 118 11 791 1-78 on September 30, 2021 by guest. Protected 1982 16 130 11 557 1-38 diagnosis could be established. One couple had a previous child with a corrected transposition. Renal (14 babies) There were eight cases, all male, TABLE 2 Study babies with chromosome abnormalities. who had bilateral renal agenesis, the diagnosis being proven in seven at necropsy. Cystic renal disease Type of abnormality Number ascertained was found in six babies, three of whom had infantile Trisomy 9 1 polycystic disease (type I in Potter's classification8), Trisomy 13 5 two had urethral obstruction (Potter type IV), and Trisomy 18 9 one had histological changes of bilateral dysplasia Trisomy 21 4 Unbalanced Robertsonian (Potter type II). translocation 13q;14q* 2 Triploidy 1 18p- 1 Pulmonary (11 babies) Herniation of abdominal Other 1 contents into the thorax occurred in 10 babies who Total 24 were otherwise normally formed. In seven a defect *Includes one presumptive case, see text. in the diaphragm was documented at surgery or J Med Genet: first published as 10.1136/jmg.23.1.58 on 1 February 1986. Downloaded from 6() I D Young, A B Rickett, and M Clarke necropsy. lThree babies were documented as having facial differentiation with no ears or neck, short complete agenesis of the left hemidiaphragm at upper limbs, and a large skin defect involving the necropsy. One of these families had had a previous thorax and abdomen. Another had a missing cranial child who died shortly after birth with the same vault, anophthalmia, and exomphalos. Two babies condition. The baby who died with pulmonary consisted of only a pear-shaped body with lower hypoplasia had normal kidneys. limbs but no upper limbs or head. Gastrointestinal (three babies) The baby described as Vater association (three babies) having achalasia had a grossly dilated oesophagus at necropsy. Histology showed normal ganglion cells Cloacal anotnalies (two babies) One showed cloacal but very little mrlscle. The babies with exomphalos exstrophy and the other persistence of the cloaca. and gastroschisis were both very premature and macerated. Other recessive syndromes (10 babies) Six babies had Meckel's syndrome, of whom five were born to Cerebral (Jive babies) Two babies had holo- Hindu parents as documented elsewhere.9 One baby prosencephaly, one with a median cleft lip in whom had hydrops fetalis with normal haemoglobin, bones, chromosomes were normal, and the other with and chromosomes. The parents subsequently had cyclops in whom chromosome studies were another similarly affected child. The baby with unsuccessful. In the baby with cyclops abnormalities Roberts's syndrome already had an affected surviving were limited to the brain. The baby with lissen- older sib. Two sibs born to first cousin Asian parents cephaly had an abnormal facial appe-arance with low had a short neck, scoliosis, and webbing of the set ears and epicanthus. Chromosomes were elbows, hips, and knees, abnormalities consistent normal. with a lethal pterygium syndrome.111 Skeletal (nine babies) The diagnoses listed in table 3 Multiple congenital abnormalities (cause unknown) copyright. are based on review of photographs and x-rays in There were 20 babies in the study who had two babies, review of photographs alone in two abnormalities which cannot be readily classified, babies, and review of x-rays alone in two babies.
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