Hospital based surveillance of birth defects – a brief on standard operating procedures
Birth defects (also called congenital anomalies) are defined as abnormalities of body structure or function, including metabolic disorders that are present at birth and are of prenatal origin. Birth defects contribute to a significant proportion of perinatal, neonatal and child mortality. Globally, about 7.9 million children are born annually with a serious birth defect of genetic or partially genetic origin. WHO estimates that out of 1 million neonatal deaths in 2012 in South-East Asia Region, about 46000 (4.6%) were caused by birth defects.
The birth defects spectrum involves different organ systems of the body. The most common birth defects include congenital heart diseases (CHD), neural tube defects (NTD), Down syndrome, hemoglobinopathies musculoskeletal disorders and others. Many risk factors are known to be associated with birth defects like genetic factors (single gene defects, chromosomal disorders), maternal conditions, (diabetes and obesity, maternal age, and behaviors), micronutrient malnutrition (insufficiency of folic acid, iodine) and exposures to teratogenic environment. The prevalence and spectrum of birth defects varies among different communities and regions depending on the presence or absence of these risk factors.
Many of these factors are preventable. So, there is wide range of prevention and intervention approaches like legislation, controlling management of toxic chemicals, vaccination against rubella, folic acid supplementation and fortification of staple foods with micronutrients (iodine and folic acid) ,prevention and management of syphilis and a timely identification of a family risk of inherited disease, and carrier screening with genetic counseling are some of these.
Adequate data and information on birth defects is not available in India. The state of Haryana has taken an initiative to establish district hospital based surveillance. This is proposed to be extended to selected subdistrict and private hospitals in two districts. Such information is important to understand the public health burden and design prevention and management programmes in the country. To improve data and information, there is a need to develop surveillance mechanism. In the beginning, it has been considered to establish hospital-based surveillance mechanism, initially starting in selected hospitals with high case load of child births. In due course and with experience gained this could be considered for expansion to other hospitals, so that the data collected would be reflective of the most of the regions in the country. In this brief, hospital based surveillance of visible birth defects in public and private hospitals is described.
- to study at-birth prevalence and distribution of selected visible birth defects among live and still births in hospitals (government and private)
- to standardize collection, analysis, interpretation and sharing of data on selected birth defects in hospitals
- to build capacity of birth defects surveillance in hospitals
- Inclusion Criteria:
The following will be inclusion criteria for a newborn to be enrolled in the surveillance.
- Fetus / baby (live births and stillbirth) delivered in the hospital
- Birth defects identified at birth or before discharge (or death) from the hospital
- Live births and still births born with at least one of the selected major externally visible structural birth defects
- Babies delivered at a gestation period of 24 weeks or more, or a birth weight of at least 500g when gestation period is not available
Externally visible major birth defects
- Neural tube defects
- Oro-facial clefts: Cleft lip/cleft palate
- Talipes equinovarus-club foot
- Limb reduction defects
- Exomphalos / Omphalocele
- Imperforate anus
- Down syndrome
- Congenital diaphragmatic hernia
- Congenital heart disease
- Tracheoesophageal fistula
- Exstrophy of bladder
- Down syndrome
- Congenital diaphragmatic hernia
- Congenital heart disease
- Tracheoesophageal fistula
- Exstrophy of bladder
- Other defects
All hospitals should identify and report the listed externally visible major birth defects at the minimum. However, it is understood that hospitals may like to record any other birth defects (minor and major) that are detected in babies to provide appropriate counseling and services.
- Case definitions:
- Neural Tube Defects: Neural tube defects affect the brain and spinal cord, and are among the most common of the congenital anomalies. The most prevalent types of neural tube defects are anencephaly, encephalocele and spina bifida.
- Anencephaly (Q00.0): A congenital malformation characterized by the total or partial absence of the cranium vault, the covering skin, and the brain missing or reduced to a small mass
Craniorachischisis (Q00.1): refers to the presence of anencephaly with a contiguous spine defect without meninges covering the neural tissue ( rachischisis)
Iniencephaly (Q00.2): Iniencephaly is a rare and complex NTD involving the occiput and inion, resulting in extreme retroflexion of the head variably combined with occipital encephalocele or rachischisis of the cervical and thoracic spine. In iniencephaly, the Cranium is always closed
Encephalocele (Q01.0-Q01.2, Q01.8-Q01.9): A congenital malformation characterized by herniation of the brain and or meninges through a defect in the skull. Encephalocele is not counted when present with spina bifida
Spina bifida (Q05.0-Q05.9): defects in the closure of the spinal column characterized by herniation or exposure of the spinal cord and or meninges thorough an incompletely closed spine. Includes: meningocele, meningomyelocele, myelocele, and rachischisis.
- Cleft palate alone (Q35.1-Q35.9, Q38.5, Q87.0); A congenital malformation characterized by a closure defect of the hard and or soft palate behind the foramen incisivum without cleft lip. It includes, submucous cleft palate. This defect may be missed if not specifically looked for.
- Cleft lip with or without cleft palate (Q36.0, Q36.9) (Q37.0-Q37.9): A congenital malformation characterized by partial or complete clefting of the upper lip, with or without clefting of the alveolar ridge or the hard palate
Hypospadias (Q54.0-Q54.3, Q54.8-Q54.9): A Congenital malformation characterized by the opening of the urethra ventrally and proximally from the tip of the penis. Includes penile, scrotal and perineal hypospadias. Excludes ambiguous genitalia.
Talipes equinovarus/ clubfoot (Q66.0, Q66.8): A complex deformity of the foot with basic characteristics: 1) the affected foot points downward (plantar or equine flexion); 2) the toes point inward (adduction of the foot); and 3) the sole is angled inward (varus deformity of the entire foot
Limb reduction deficiencies (Q71.0-Q73.8): A congenital malformation characterized by total or partial absence or severe hypoplasia of skeletal structures of the limbs.
Exomphalos / Omphalocele (Q79.2): A congenital malformation characterized by herniation of abdominal contents through the umbilical insertion and covered by a membrane which may or may not be intact. Excludes gastroschisis, hypoplasia of abdominal muscles, and a skin covered umbilical hernia.
Gastroschisis (Q79.3): A congenital anomaly of the anterior abdominal wall, accompanied by herniation of the gut and occasionally other abdominal organs. The opening of the abdominal wall is lateral to the umbilicus usually through a right side abdominal wall to one side of an intact umbilical cord and not covered by a membrane. Excludes hypoplasia of abdominal muscles, skin covered umbilical hernia and omphalocoele.
Gastroschisis and omphalocele can be confused with one another when the membrane covering the omphalocele has ruptured. In that case, the location of the abdominal opening is decisive: it is mid line in omphalocele and lateral to the umbilicus in gastroschisis.
Imperforate anus (ICD code – Q42.3: An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is malformed. ARMs are a spectrum of different congenital anomalies in males and females, that varies from fairly minor lesions, as well as complex anomalies
Optional birth defectsDown syndrome/ Trisomy 21 (Q90.0, Q90.1, Q90.2, Q90.9):-Down syndrome is a chromosomal disorder that is characterized by the presence of flat faces, upslant, depressed nasal bridge, hyperteleorism, small ears, hypotonia, and protruded tongue. These babies have varying degrees of intellectual disability, dysplastic middle phalanx of 5th finger (Clinodactyly) ,short and broad hands and small fingers (Simian crease), Increased space between 1 and 2 toes (Sandal Gap)
- Congenital Diaphragmatic Hernia (Q79.00, Q79.01, Q79.1, Q79.10, Q79.11, Q79.12 :-CDH occurs due to a defect in the formation of diaphragm through which gastrointestinal organs like stomach, intestines and liver can herniate into the chest causing poor development of the lungs resulting in life threatening breathing difficulties at birth.
- Congenital malformations of cardiac chambers and connections (Q20-Q28):- A congenital malformation of the structure of the heart can involve the walls or valves of the heart, and aorta or other large blood vessels near the heart. There are many types of congenital heart diseases; some of the common ones are atrial septal defect (ASD), ventricular septal defect (VSD), pulmonary (valvular) stenosis, aortic stenosis, coarctation of the aorta, Tetralogy of Fallot, and Transposition of the great arteries (TGA).
- Tracheo-oesophageal fistula (Q39.0, Q39.1, Q39.10, Q39.11, Q39.2, Q39.20, Q39.3)
Tracheo-esophageal fistula (TEF) is an abnormal connection between the food pipe (esophagus) and the wind pipe (trachea) which presents in a newborn by copious salivation associated with choking, coughing, vomiting and cyanosis with the initiation of feeding.
- Exstrophy of bladder (Q64.1):-Bladder exstrophy is a congenital anomaly in which the bladder is incomplete and protrudes out through a defect in the abdominal wall.
- Case Ascertainment :
All births (live and still births) must be screened for presence of birth defects, at birth and before discharge (or death) from the hospital.
- The doctors/nurses (Pediatric/OBG) present in delivery area (labour room/O.T.) to attend all births.
- Conduct a complete head to toe examination of the live newborn / still birth (>500 gm/24 weeks gestation) by examination of head, ear, face, abdomen, pelvis, limbs, genitals and anus and note all the birth defects, if any.
- The cases with birth defects may need to be referred to appropriate speciality for full work up and relevant investigations for confirmation, including karyotyping and genetic studies, as required as well as for treatment and care.
Establishing BD surveillance in the hospital:
- Head of Departments of Pediatrics / In-charge Neonatology and Head of Departments of Obstetrics & Gynecology would receive the training for birth defects surveillance.
- One of them may be designated as the Nodal Officer for birth defects surveillance at the hospital.
- After being trained, Head of Department of Pediatric / In-charge Neonatology and Head of Departments of Obstetrics & Gynecology would convene a meeting in the hospital to:
- Plan to establish surveillance of birth defects in the hospital
- Identify the personnel for :
- Data collection: Resident doctor / nurse/general nurse midwife
- Data entry into online SEAR-NBBD Database: Resident doctor / nurse / data entry operator
- Agree to the SOPs to be followed to manage the surveillance system in the hospital
- The nodal officer (who has received training in birth defects surveillance) would further train the identified personnel (resident doctors, nurses, working in the Pediatric and Ob & Gynecology Department; and data entry operator) regarding the filling of the birth defects abstraction form.
- Adequate number of copies of birth defects abstraction form would be made available in hospital delivery (labor) rooms, operating theaters, postnatal ward and neonatal units including SNCU.
- Manual and Atlas of birth defects surveillance and wall posters on birth defects will be made available in these sites.
- Computer and broadband connection will be required for online submission of the forms to SEAR-NBBD database.
Filling the Data abstraction form
- If a baby is detected with birth defect/s the standard data abstraction form will be filled and attached to the case sheet.
- All the fields in the abstraction form must be filled completely and correctly. It is especially important to provide complete physical description of the birth defects in the text box.
- Complete and correct information must be ensured by using case sheets of mother and baby and taking further history from the mother as required.
- In case of babies in whom a birth defect is missed at the time of delivery may be detected after they are transferred to postnatal ward or neonatal unit/ pediatric ward. In such cases the form will be filled there.
- Photographs of birth defects should be taken as per the standard procedure (at least one full body picture and one of the affected part(s).
- At the time of discharge or death of the baby, the filled form will be taken out of the case sheet and stored in the designated folder. This is important to keep the records for later need of confirmation / validation.
- Data of the birth defect/s in each baby will also be recorded in the labour room / OT register, admission and discharge / death registers maintained by the hospital.
Confirmation and coding of birth defects
- Forms would be further completed in the following situations:
– After any confirmatory tests (like x ray, USG, MRI, CECT, karyotyping etc.)
– A new or additional defect is detected during the baby’s stay in the postnatal ward or neonatal unit / pediatric ward/SNCU.
- Select the most appropriate ICD -10 code selected from ICD 10 list to describe all birth defects observed (based on the description and photograph included in the form). The online system provides the support for assigning the ICD codes for several birth defects through the dropdown menus. (Complete list of ICD codes for birth defects is available at the web link :
Uploading the information in the WHO/NBBD birth defect web portal
- First-time registration: Refer for online registration to SEAR-NBBD
- Refer to logging in and entering birth defects form
- Upload the photograph of the birth defect/s.
Management of birth defects
- After identification of a birth defect, it is essential to provide appropriate services:
- Immediate management and referral within or outside the hospital
- Information about the risk of recurrence. Couple with isolated fetal birth defects is given a recurrence risk of about 5 percent in the next pregnancy.
- Information on preventive measures to prevent that defect in that family
Quality assurance of surveillance at hospital level
- Nodal person/s are responsible for quality assurance in each case that covers at least three aspects:
- Ensure that all babies delivered in the hospital (live births and still births) are clinically examined for detection of the birth defects at the earliest opportunity after their delivery.
- Ensure that the birth defects form for each baby with birth defect/s is filled up completely before discharge or death.
- Each filled up birth defects form is checked for completeness and accuracy and taken out of the case sheet before it is dispatched to hospital records section.
- All filled up forms are stored in the designated folder under lock and key.
- Scanned copies of the filled up forms as well as photographs are electronically stored in the computer that is password protected.
- Hospital birth defect surveillance nodal person will review each data collection form and send it to WHO SEAREO after reviewing its completeness and accuracy.
Analysis and interpretation:
- Nodal person/s will tabulate and analyze the data every month, quarterly and yearly
- Analysis is done for:
- At birth prevalence of birth defects in live born and still born babies separately.
- Distribution of birth defects in relation to type, sex of the baby, gestation of the baby, risk factors is calculated
- Time trends are to be determined as the time passes.
- Nodal persons will arrange briefing of the whole team: Hospital Superintendent, staff in pediatrics and Ob-Gyne departments and data gatherers.
- Annual report is to be shared with the district / state programme manager and onward with national programme manager.
Role and responsibilities
Data reporter :-
Personnel working for data collection will visit daily the delivery rooms, operation theaters (for C- Section), postnatal ward and neonatal unit/ pediatric ward/SNCU in the hospital to examine the live born and stillborn babies.
- Conduct a complete physical examination of all live born / stillborn babies including examination of the head, face, mouth, ear, chest, back, abdomen, pelvis, upper and lower limbs, genitalia and anus to detect any birth defect.
- If a baby (live born or stillborn) is identified with a birth defect she / he will completely fill the birth defects abstraction form.
- In addition to completing the form, personnel collecting data will document each case with photographs
- Personnel collecting data will select the most appropriate ICD – 10 code to describe all birth defects observed. Personnel collecting data should utilize the atlas and manual on birth defects to undertake case diagnosis and ICD coding.
- When there is difficulty in identifying diagnosis of a case, final classification and diagnosis will be done by more experienced staff with confirmatory tests.
- Personnel collecting data will also record the birth defect(s) in the delivery, admission and discharge / death log books.
- He/ she will be responsible for entering the data from the paper form into the online system.
- All the fields need to be filled accurately.
- After completion, the form will be submitted by clicking the submit button.
- On submission unique id number is generated by the SEAR-NBBD system automatically.
B .Nodal persons at hospital (Verifier)
- Orient the personnel (residents, nurses) working in the Pediatric and Ob-Gynecology Department regarding correctly and completely filling of the birth defects abstraction form.
- Provide ongoing support for skill building and problem solving.
- Undertake quality check of the data: Review the birth defects form for its completeness and accuracy, and confirm the diagnosis of the birth defects before or after submission online.
- Analyze data at least every month and discuss with the team in the hospital.
- Share the analysis with state / national program manager at quarterly / annual intervals.
- Birth defect surveillance: A manual for programme managers WHO CDC International clearinghouse for birth defects surveillance and research WHO 2014.
- Hospital based birth defects surveillance A guide to establish and operate NBBD World Health Organization 2016
- Birth defects surveillance Atlas of selected congenital anomalies WHO CDC International clearing house for birth defects surveillance and research WHO 2015
- Hospital based birth defects surveillance Facilitator guide NBBD WHO World Health Organization 2016.
Dr Vijay Kumar SWACH
Mr PN Mohanty SWACH
Dr Suresh Dalpath NHM Haryana
Dr Earl Garg District Ambala
Dr Vijay Dahiya District Yamuna Nagar
Dr Rajesh Mago District Yamuna Nagar