The prevalence rate of congenital anomalies at birth

is 2-3% in the first year of life.

Many anomalies of the internal organs such as the

lungs, kidneys, and heart are not visible at birth, and

they present by advancing age, the first five years of

life, about 4-6%

Congenital anomalies can contribute to long-term

disability, which may have significant impacts on

individuals, families, health-care systems, and societies

congenital anomalies may be the result of one or

more genetic, infectious, nutritional or environmental

factors, it is often difficult to identify the exact causes

Congenital anomalies are the number one cause of

infant mortality in the developed world, accounting

for 20% of infant deaths.

Lethal fetal anomalies now routinely detected

in the antenatal period.

anencephaly, skeletal anomalies,

genetic disorders including triploidy and trisomies

13, 15 and 18,

and bilateral renal tract anomalies such as renal

agenesis,

multicystic or dysplastic kidneys and polycystic

kidney disease

Non-lethal have long-term implications for the

patient/family

• Sonography/- have a prognostic value of prenatal

diagnosis for postnatal treatment.

• There are significant long-term medical treatments

associated with many non-lethal fetal abnormalities.

Much of the (substantial) childhood morbidity and

mortality related to anomaly comes from delays in

detection, diagnosis, and treatment.

Fetal anomaly scan

At 18 to 20 weeks, detailed ultrasound can

evaluate most anatomic structures.

Earlier second-trimester anatomic

evaluation at < 18 weeks should be limited

to high-risk patients and/or specialized

centers.

20 +2 planes & abnormal

appearances

Basic Training

Plane Area Abnormal appearances {50+intrauterine death (IUD)} excluded by the

correct 20+2 approach

Sweep

1 Anencephaly, Intrauterine death

1-3 Spine Abnormal abdominal situs, left sided diaphragmatic

hernia, meningocoele, Open spina bifida, sacral

agenesis, sacral coccygeal teratoma,

4-6 Head Alobar holoprosencephaly, banana shaped cerebellum, cystic hygroma,

large posterior fossa cyst, lemon shaped skull, occipital encephalocoele,

skin oedema, ventriculomegaly

7-10 Thorax atrioventricular septal defect (AVSD), congenital pulmonary airway

malformation (CPAM), double aortic arch, ectopia cordis, overriding aorta,

persistent left vena cava*, right aortic arch, severe aortic stenosis,

coarctation & pulmonary stenosis, significant pericardial effusion (>4 mm) &

pleural effusion (>4 mm), situs inversus/ambiguous, tetralogy of Fallot,

transposition, univentricular heart, ventricular septal defect (VSD)

(moderate/large)

11-13 Abdomen Ascites, bilateral renal agenesis, duodenal atresia, echogenic bowel*,

gastroschisis, omphalocoele, renal pelvic dilatation (>7 mm anterior

posterior/AP), small/absent stomach

14 Pelvis Cystic renal dysplasia, lower urinary tract obstruction, 2 vessel cord

15-17 Limbs Fixed flexion deformities wrist, severe skeletal dysplasia (some), talipes

18-20 Face Anopthalmia, cataract*, cleft lip, proboscis*, severe micrognathia

first ultrasound scan

confirm viability, establish gestational age accurately, determine the number of viable fetuses and, if requested, evaluate fetal gross anatomy and risk of aneuploidy.

Before starting the examination, a healthcare provider should counsel the woman/couple regarding the potential benefits and limitations of the first-trimester ultrasound scan.

(GOOD PRACTICE POINT) ISUOG

Increased fetal NT thickness phenotypic expression of Increased fetal NT

thickness

chromosomal defects ,fetal malformations

and genetic syndromes..

the chances of delivering a baby with no major

abnormalities is more than 90% if the fetal NT

is between the 95th and 99th centiles,

about 70% for NT of 3.5–4.4 mm,

50% for NT 4.5–5.4 mm,

30% for NT of 5.5–6.4 mm

and 15% for NT of 6.5 mm or more.

hygroma in the first trimester, a karyotype abnormality occurred in 55% of fetuses (most commonly trisomy 21, monosomy X, and trisomy 18)

major congenital anomaly occurred in 29% of fetuses with a normal karyotype

(cardiac anomalies , urinary, central nervous system, and body wall anomalies).

Overall, an abnormal outcome occurred in 87% of fetuses

If an enlarged NT or an anomaly is identified on ultrasound examination,

the patient should be offered genetic counseling and diagnostic testing for genetic conditions detailed ultrasonography at 18–22 and fetal echo.

ACOG PRACTICE BULLETIN VOL. 136, NO. 4, OCTOBER 2020

Maternal complication with fetal

anomaly

Marked polyhydramnios with fetal anomaly

( CNS,CHD,NTD ,intestinal, abdominal wall may result

in preterm labor, premature rupture of membranes, and prolapsed umbilical cord.

unstable fetal position,

dystocia of labor, Shoulder dystocia can result in both physical and psychological maternal trauma.

placental abruption,

Delivery truma

Cesarean

Post partum hemorraghe,

mirror syndrome

Preeclampsia

Fetal complication

(basedon anomaly ,Kind , Severity.)

IUFD

IUGR -Intrapartum fetal distress,

Hydrops fetalis

anemia

Prematurity

Birth trauma

Neonatal complication

What is the purpose of fetal

ultrasound scan ? obtain prognostic information prior to birth,

a primary goal is to determine lethality, or non lethal which may alter management of the pregnancy and delivery.

learn about treatment options before and after delivery,

reach decisions concerning the management approach that is best for their family

whether to terminate pregnancy or undergo in utero intervention, if available; nonintervention),

and plan for specific needs at birth .

Different defects require particular assessment, evaluation and care.

What is the purpose of fetal ultrasound scan ?

Optimal outcomes for children with major anomaly can be achieved with prenatal diagnosis and management by a collaborative, multidisciplinary team of Obstetrician, Pediatricians, Geneticist and perinatologist and neonatal subspecialists.

Significant time and emotional support is needed around the time of antenatal diagnosis and in preparing the parents for delivery and the postnatal period.

Pregnancy management

When a fetal abnormality is detected,

1-Assessment for another anomaly

a complete fetal anatomic survey can be

performed, and there is time for further

evaluation (echocardiogram, if indicated, while

the fetus is still periviable Viable or non

viable

2-Genetic assessment’

CGH Array, Karyotyping, genetic Syndrome,

A family history (the familial recurrences)

Antenatal monitoring

3- Antenatal monitoring is dependent on the presence of associated anomalies and the underlying diagnosis

Ultrasound follow-up

The necessity, timing, and frequency of serial assessment should be guided by the nature and severity of the lesion

The purpose is to educate the patient about the suspected diagnosis and discuss management options before and after delivery, including the preferred site for delivery

4-Fetal therapy. Fetal intervention. Fetal surgery

5-Evaluation of fetal well-being

Serial ultrasound examinations every 1–2 weeks to monitor fetal growth, amniotic fluid, worsening ascites, and progression to generalized hydrops fetalis

• Begin fetal nonstress test and/or biophysical profile testing at viability.

• Consider therapeutic fetal paracentesis before delivery.

6-Delivery management Timing and route.

premature labor is increasing.

• Consider therapeutic fetal paracentesis before delivery.

Labor and delivery are frequently associated with an unstable fetal position, dystocia of labor,

placental abruption, and postpartum hemorrhage

cesarean or vaginal or Exit

7-Delivery place. Delivery in tertiary care facility is recommended.

8-Delivery room care. Risk assessment for anticipated compromise in the delivery

room or during the first few days of life is disease-specific

9-Recurence If the diagnosis of fetal anomaly was suspected but not

confirmed antenataly then a postmortem examination should be offered and encouraged.

If a postmortem is declined then a placental or cord biopsy should be sent for cytogenetic analysis and DNA storage (more and more conditions are amenable to genetic diagnosis) and consideration should be given to further investigations,

X-rays, computerised tomography or magnetic resonance imaging, and geneticist review according to local protocols.

Estimate a recurrence risk for subsequent pregnancies.

10-Prevention

Some congenital anomalies can be prevented.

Vaccination,

adequate intake of folic acid

or iodine through fortification of staple foods or supplementation,

and adequate antenatal care are just 3 examples of prevention methods.

KEY POINT

Early detection of congenital anomaly will

reduce the birth of babies with congenital

anomalies.

It will also ease the economic burden,

psychological trauma to the parents and family.

Collaboration between Obstetrician,

Pediatricians, Geneticist and perinatologist is

required for management of viable congenital

anomalies.

KEY POINT

prenatal diagnosis of CAs is important for

adequate perinatal management in a tertiary

healthcare service with a multidisciplinary

team to decrease maternal and fetal morbidity

and mortality rates.

A better understanding of the possible risk

factors associated with CAs is crucial for the

primary prevention, especially during the

preconceptional period.