الفهرس 
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Abstract
Birth defects are the structural, functional and metabolic disorders that originate in
utero and identified before, at birth or later in life. They are the most important causes of
spontaneous abortions, perinatal mortality, neonatal mortality, children morbidity and
long-term disability. The exact causes of most birth defects cases are still un identified in
40-60% of cases, the known causes are genetic ; chromosomal, single gene defect or
multifactorial and non-genetic ; teratogenic drugs, chemicals, irradiation or infections . Consanguineous marriage, parental ages at conception, maternal illness as Diabetes
Mellitus hypertension, epilepsy and thyroid disorders as well as hyperthermia are risk
factors for birth defects. Birth defect may be malformation, deformation, disruption or dysplasia. It can
involve single primary system as isolated congenital heart or multiple as syndromes,
association or sequence. It varies in severity from major defects that may be even lethal, need surgical and
medical treatment or mild as minor defects that require no treatment. Management of birth defect is costly, the affected children require hospitalization for
longer duration and more frequents than the others so birth defects have significant burden
on child health, families, health care providers and societies. The best treatment for birth defects is prevention and genetic counselling plays a
significant role for diagnosis and management
The aim of this work was to study the pattern and frequency of birth defects among
hospitalized patients at Fawzy Moaz Pediatric Hospital over a period of one year to allow
accurate diagnosis, early management, proper genetic counseling and rehabilitation. It will
also increase the awareness of parents, medical staff and health authorities on birth defects. The study was conducted to 238 (6.8%) patients with birth defects out of 3498
patients who were admitted to different departments of the hospital including intensive
Summary, Conclusion and Recommendations
164 cares for neonat, pediatric and inpatient wards. Males were134, female 99 and 5 had
undifferentiated sexes.
Patients and methods: All the patients were subjected to detail medical, genetic history,
pregnancy and delivery history, complete clinical genetic examinations with special
emphasis on craniofacial and limb examination as well as anthropometric measurements,
pedigree analysis and clinical photography. chromosomal analysis, radiological studies,
hormonals, enzymes and factors assay, metabolic screening or molecular study were
according to the individual cases.
The results of the study revealed the following:
According to systemic ICD10 classification of birth defect, the studied 238 cases
were categorized into 15 groups; the commonest groups were isolated cardiovascular
defects (25.63%), chromosomal (21.43%) and musculoskeletal defects (13.87%) while the
least common were hematological disorders and isolated cleft lip and cleft palate.
group 1: Isolated Congenital cardiovascular defects were 61 cases (25.63%) ; patent
ductus arteriosus ,ventricular septal defect and atrial septal defect were
frequent in acynotic type and transposition of great arteries and tetralogy of
Fallot of cyanotic type. group 2: chromosomal defects were 51 cases (21.43%).trisomy 21 was the most
frequent. the other were trisomy13, trisomy 18, ring chromosome 11, Di George syndrome, William syndrome and Turner syndrome
group 3: Musculoskeletal system defects; were 33 cases (13.87%).skeletal dysplasia
was the most frequent including 2 cases of each Achondroplasia, Ellis Van
Crevelled and asphyxiated thoracic and one case of each of the following;
Thanatophoric dysplasia, campomelic dysplasia and Fibrochondrogenesis.
group 4: Central nervous system & neuromuscular defects were 18 (7.56%); the
commonest were microcephaly (6) followed by neural tube defects (4cases).
Summary, Conclusion and Recommendations
165
group 5: Congenital endocrinal defects; were12 cases (5. 04 %); diabetes mellitus
type 1 cases were the most common followed by congenital adrenal
hyperplasia
group 6: Congenital Skin disorders were 9 cases (3.78 %), Icthyosis and
neurofibroma type 1 were the most frequent
group 7: Congenital Inborn Error of metabolism was 9 cases (3.78%) organic
Acidemia was the commonest
group 8: Genitourinary system defects were 8 cases (3.36%); hypospadias was the
most frequent in 4 cases.
group 9: Sequences and association were 6 cases (2.52%), 50% were Pierre Robin
sequences, VACTREL association in 33.33% and potter in 16.66%
group 10: Dysmorphic syndromes were 5 cases (2.10%). These cases were Johonson
Blizzard, Apert, Treacher Collin, charGE, Goldenhar syndromes.
group 11: Gastrointestinal system defects were 4 cases (1.68%); imperforated anus
and diaphragmatic hernia were equally presented in this study (50%).
group 12: Miscellaneous cases were 4 cases (1.68%); they were Beckweith weidmann,
Noonan, Silver- Russel syndromes and anticonvulsant embryopathy.
group 13: Hematological disorders were 2 cases (0.84%)
group 14: Isolated cleft lip and isolated cleft palate group were 2 cases (0. 84%).
Groups 15: Uncertain diagnoses were 14 cases (5.88%) as final diagnosis was not
reached The mean maternal age was 28.18±2.03, The highest mean maternal age was among
chromosomal group (32.5±7.89) specifically the non- disjunction type(35.4±7.02) while
The mean Paternal age at time of conception was 36.10±1.4 and The highest mean paternal
age was detected in miscellaneous group 40.75 ± 15.37.
Summary, Conclusion and Recommendations
166 Parental Consanguinity detected in 31%, more frequent in inborn error of
metabolism group 77.78% and skin defects 55.56%. Family history of similar genetic
defects detected in 17.22% of cases while history of other genetic disorders in family
detected in 5.04% of cases. Maternal history of abortion detected in 29.4%, more common in chromosomal
defect group, the pregnancy assisted by intracytoplasmic sperm injection was 2.94%, and
pregnancy complicated with Polyhydraminous was present in (13.86%), while
oligohydraminous was in 7.56%. Maternal diabetes was detected in 24 cases, preeclampsia in 42, thyroid disorders in
2 cases, bronchial asthma in 2 cases, Congenital heart in 2 cases, epilepsy in 1 case.
Maternal infection was present in 5 cases and 3 cases had maternal hyperthermia and
Hyperpyrexia during pregnancy. Maternal use of drugs during pregnancy was present in 19.75%, 1.26% had active
maternal smoking and one case had maternal exposure to radiation during pregnancy. Folic
acid was received by 61.76% post conception but not regular. Most cases were delivered by C/S (84,4%), 74.8 % were full terms and 25.2 % were
preterm while 93.69 were single,5.46% twins and 0.84% were more than twins. The mortality rate among cases of birth defect cases was 36.9% while it was 1.5%
among non- Birth defect and isolated cardiovascular defect was the most common cause of
death followed by chromosomal , central nervous system neuromuscular defect 33.3% for
each group.
Conclusion and recommendation; Frequency of birth defects was high with increased
mortality rate in isolated cardiovascular defects and chromosomal defects. National survey
is required for monitoring prevalence, pattern of birth defects, identifying the etiology and
prevention. Genetic counselling, carrier detection, folic acid supplement to all females pre
and post conception and antenatal care for control maternal illness. Perinatology centers
and expansion of neonatal screening are required.