Our Services - KARU Fetal Diagnosis, Therapy, Genetics, and Research Institute

Ultrasound scans

Dating or viability scan

The ideal period of gestation: 7-9 weeks.
Significance:
• To see if it is an intra/extra-uterine pregnancy.
• To check if the conception is viable.
• To determine the gestational age
• To rule out singleton, twin, or multiple gestations
Route: Transabdominal or transvaginal; Transvaginal has better clarity.

NT Scan

The ideal period of gestation: 11-13 weeks and 6 days.
Significance:
• To determine the accurate gestational age and estimate the delivery date
• To calculate the risk of having a chromosomal abnormality (NT)
Route: Transabdominal or transvaginal or both; Transvaginal has better clarity and accuracy.

Advanced NT or First-Trimester Anomaly

The ideal period of gestation: 12-13 weeks 6 days
Significance:
• To determine the accurate gestational age and estimate the due date.
• To calculate the risk of having a chromosomal abnormality (NT, Nasal bone, Ductus venosus, and Tricuspid Doppler)
• To calculate the chances of developing pre-eclampsia, fetal growth restriction, or spontaneous preterm birth
• To look for fetal structural anomalies
Route: transabdominal or transvaginal or both; Transvaginal has better clarity and accuracy.

First-Trimester Neuro Sonography

The ideal period of gestation: 13-15 weeks
Indication:
• Previous child with a central nervous system (CNS) abnormality.
• Suspecting a CNS abnormality in the NT scan.
• Parents are known carriers for a genetic condition affecting the brain.
Route: transabdominal or transvaginal or both; Transvaginal has better clarity and accuracy.

Early Anomaly or Early Fetal Echo

The ideal period of gestation: 16-18 weeks
Indication:
• Increased NT
• High risk for chromosomal abnormality in Double marker
• Fetal structural anomalies are detected in an NT scan
• The patient is at high risk for a spontaneous preterm birth.
Route: transabdominal or transvaginal or both; Transvaginal has better clarity and accuracy.

TIFFA or Anomaly Scan

The ideal period of gestation: 18-22 weeks
Significance:
• To look for fetal structural anomalies
• To categorize the pregnancy as high/low risk for developing preeclampsia (Detailed history, Mean arterial pressure, Uterine artery Doppler) or spontaneous preterm birth.
Route: transabdominal predominantly; Transvaginal may be used in few cases.

Fetal Echo

Ideal period of gestation: 20-22 weeks
Indication:
• NT more than 3.5 mm
• The mother or a previous child has a congenital heart disease.
• There are soft markers or fetal structural anomalies in the NT scan or the anomaly scan.
• The mother has autoimmune diseases, Gestational diabetes or drug exposure.
• IVF/ICSI conception
• Unexplained hydrops
Route: transabdominal predominantly; Transvaginal may be used in few cases.

Third-Trimester Fetal Echo

The ideal period of gestation: 34 weeks
Indication:
• To prognosticate a cardiac abnormality detected in the first or second trimester and to decide upon the mode & place of delivery; to predict the need for an immediate neonatal intervention.
• Maternal autoimmune diseases, Gestational diabetes or drug exposure.
• Unexplained hydrops
Route: transabdominal

Interval Growth Scan with Fetal Doppler

The ideal period of gestation: 28 weeks, 32 weeks & 36 weeks
Significance:
• To observe the fetal growth pattern with growth charts
• Doppler assessment of the Middle cerebral artery, umbilical artery, uterine arteries, and ductus venosus to diagnose and manage fetal growth restriction.
• To look for late-onset fetal structural anomalies (25% of fetal anomalies are detected for the first time in the third trimester).
• To plan the management of FGR babies.

Route: transabdominal predominantly; Transvaginal may be used in very few cases

Fetal Neuro Sonography

The ideal period of gestation: Any time when it is indicated
Indication:
• Suspicion of CNS or spinal malformation in the routine screening ultrasound
• Suspicion of CNS or spinal malformation in the NT scan
• Family history of inheritable CNS or spinal malformations
• Previous pregnancy complicated by a fetal brain or spinal malformation.
• Fetus with a congenital heart disease
• Monochorionic twins
• Suspected intrauterine infection.
• Exposure to teratogens known to affect neurogenesis.
• Chromosomal microarray findings of unknown significance
Route: The transvaginal approach is the preferred method to perform an adequate high-clarity targeted neuro sonographic examination. When this is not technically feasible (e.g. breech presentation; twin pregnancy), the examination is done by a transabdominal route.

Basal Scan

Ideal time: Day 2/3 of periods
Significance:
• Assess the blood flow to the uterus & ovaries.
• Categorise the patients as hyper, normal or poor responders.
• To know the antral follicle count which is equally effective as the AMH.
• Decide the gonadotropin stimulation dose for IUI and IVF cycles.
• Diagnose pelvic pathologies like endometritis, hydrosalpinx, polycystic ovaries, adenomyosis, fibroids etc.

3D Follicular Tracking with Doppler

Ideal time: Follicular phase day 7 to 14
Significance:
• Assess the growth and blood flow to the dominant follicle.
• Assess endometrial blood flow and morphology (estrogen level).

Pre-Trigger Scan

• Based on the blood flow values (RI & PSV) of the dominant follicle, the time of intercourse or IUI is decided.

Secretory Phase Scan

• For Mullerian abnormalities and endometrial pathologies like a scar, adhesion, polyp, etc

Luteal Phase Scan

• To predict the chances of pregnancy
• To diagnose luteal phase defect

Fetal Testing

Double Marker

• Report within 2 hrs.
• FMF certified machine
• FMF certified reporting software.

Amniocentesis

The ideal period of gestation: After 16 weeks
Indication:
• Ultrasound detection of an abnormality or soft markers
• Abnormal biochemical screening markers in the 1st or 2nd trimester
• History of genetic abnormalities in previous pregnancies or in the family
• Parental balanced translocation
• Parental carrier status of a genetic condition
• Diagnosis of fetal infection

Chorionic Villous Sampling

Ideal period of gestation: 11- 14 weeks
Indication:
• Parental carrier status of a genetic condition
• Ultrasound detection of an abnormality in the NT scan
• Abnormal biochemical screening markers in the 1st trimester
• History of genetic abnormalities in the previous pregnancies or in the family
• Parental balanced translocation

Fetal Blood Sampling and Transfusion

The ideal period of gestation: Any time when it is indicated.
Indication:
• Diagnose and treat severe fetal anemia (Most common indication)
• Diagnose and evaluate the therapeutic response in NAIT (neonatal alloimmune thrombocytopenia)
• Evaluate nonimmune fetal hydrops (Only in selected cases)
• Determine the fetal blood type and the platelet antigen status (Largely replaced by other tests eg, NIPT, CVS, or amniocentesis and molecular testing)
• Direct intravascular therapy (most commonly for failed maternal systemic treatment of fetal supraventricular tachycardia)

Fetal intervention

Conditions that may need a Fetal Medical Intervention

• Fetal and neonatal alloimmune thrombocytopenia
• Fetal anemia
• Neural tube defects
• Congenital Adrenal Hyperplasia
• Respiratory distress syndrome
• Congenital pulmonary adenomatoid malformations – Betamethasone
• To treat fetal infections such as varicella zoster virus infection, Toxoplasmosis, HIV, Syphilis, Cytomegalovirus
• Inborn error of metabolism

Conditions that may benefit from a Fetal Surgical Intervention

Congenital pulmonary adenomatoid malformations (CPAMs) –

Aspiration and drainage
Thoraco-amniotic shunt
Percutaneous laser ablation.

Bronchopulmonary sequestration (BPS) –

Thoracic-amniotic shunting for pleural effusions
Amnio-reduction for severe polyhydramnios
Percutaneous ultrasound-guided fetal sclerotherapy

Pleural effusion –

Thoracocentesis
Thoraco-amniotic shunt
Pleurodesis
Intrapleural injection of autologous blood

Fetal goiter –

Intra-amniotic infusion

Fetal arrhythmias –

Trans-placental administration of drugs
Fetal intramuscular injection of drugs

Cardiac structural malformation –

Percutaneous balloon aortic valvuloplasty
Balloon atrial septostomy
Balloon pulmonary valvuloplasty
Maternal hyperoxygenation (MH)

Twin–twin transfusion syndrome (TTTS) –

Amnioreduction
Microseptostomy
Fetoscopic laser photocoagulation
Fetoscopic cord coagulation

Twin reversed arterial perfusion (TRAP) sequence –

Percutaneous radio-frequency ablation (RFA)
Selective reduction and obliteration of blood flow in acardiac twin
Fetoscopic ligation
Harmonic scalpel division
Bipolar cautery
Thermal coagulation
Laser coagulation

Fetal Anemia-

In utero transfusion (IUT) (intraperitoneal and intravascular)
Therapeutic plasma exchange (TPE)
Intravenous immunoglobulin (IVIG) to mother

Obstructive uropathy –

Serial ultrasound-directed vesicocentesis
Vesicoamniotic shunting.
Fetal cystoscopy and valve ablation.

Sacrococcygeal teratoma (SCT) –

Laser ablation
Radio frequency ablation (RFA)
Urinary bladder drainage for obstructive uropathy
Aspiration of cystic components

Ovarian mass –

Ovarian decompression

Amniotic band syndrome (ABS) –

Fetoscopic release of band
Laser ablation

Immunological and genetic disorders –

Inutero hematopoietic stem cell transplantation (IUHCT)
Inutero gene therapy (IUGT)

Genetic counselling

Family History of Genetic Disorders

Individuals with a family history of a genetic disorder may be at an increased risk for the condition and may benefit from genetic counselling and testing.

Clinical Picture Suggestive of a Genetic Disorder

Individuals suspected to have a genetic disorder may benefit from genetic counselling and testing: to understand the condition better and know the potential treatment options.

Common Nonspecific Findings

Such as developmental delay may benefit from genetic counselling and testing to understand the condition better and know the potential treatment options.

Consanguinity

Couples related by blood, such as the first cousins, may have an increased risk of passing on the genetic disorder to their offspring if both members are carriers of the same genetic variation. In that case, their children have a 25% chance of inheriting both copies of the mutated gene and developing the disorder. Therefore, carrier screening can provide some valuable information to help couples make informed decisions about their reproductive options, such as preimplantation genetic diagnosis (PGD) or prenatal diagnosis.

Advanced Maternal Age

Women who are 35 years or older may be at an increased risk for having a child with certain genetic conditions.

Previous Pregnancy was Terminated due to Multiple Malformations

Based on the genetic testing results, we can estimate the risk of recurrence of the same or a different genetic condition affecting future pregnancies. The counsellor can also discuss the risks of other factors contributing to the malformations, such as environmental exposures or maternal health conditions. Based on that, we can discuss reproductive options such as prenatal or preimplantation genetic testing (PGT). Prenatal testing can help diagnose a genetic disorder during pregnancy, while PGT can screen embryos before implantation during in vitro fertilization (IVF).

Abnormal Prenatal Screening or Diagnostic Test results

Abnormal results from prenatal screening or diagnostic tests, such as chorionic villus sampling (CVS) or amniocentesis, may indicate the need for further genetic counselling.

Infertility or Recurrent Pregnancy Loss

Couples who experience infertility or recurrent pregnancy loss may benefit from genetic counselling and testing to identify potential genetic causes.

Ethnicity

Certain ethnic groups may have an increased risk for specific genetic disorders.

Personal or Family History of Certain Cancers

Individuals with a personal or family history of certain types of cancers, such as breast, ovarian, or colon cancer, may benefit from genetic counselling and testing to determine if they have an inherited predisposition to the disease.