Pregnancy and Birth

Screening tests and genetic testing

Screening tests are meant to determine “risk”; in the event of positive (high-risk) results, invasive tests (CVS or amniocentesis) may be recommended for a definitive diagnosis. In current practice, NIPT (cell-free fetal DNA analysis in maternal blood) shows high sensitivity but does not cover all genetic disorders.

First trimester screenings

• Nuchal translucency (NT) + biochemistry: Trisomy risk is calculated by combining the NT measurement at weeks 11–14 with markers from the mother’s blood (such as PAPP-A, hCG).
• NIPT (cffDNA): Cell-free DNA of fetal origin is analyzed from maternal plasma; it provides high accuracy in screening for Trisomy 21, 18, 13, and some sex chromosome abnormalities. A positive result must be confirmed with an invasive diagnosis.

Second trimester screenings

• Detailed anatomy ultrasound (weeks 18–22): Essential for detecting structural anomalies.
• Triple/quadruple test: In some centers, second-trimester biochemical screening may be preferred or used in conjunction with NIPT.

Invasive diagnostic options

CVS (chorionic villus sampling): Provides genetic analysis via a placenta sample performed between weeks 10–13. Amniocentesis: Chromosomal and molecular analysis is performed by taking amniotic fluid between weeks 15–20. Both are low-risk invasive procedures; potential risks and benefits should be discussed in detail with the patient.

Infection screenings

Hepatitis B, HIV, syphilis, and rubella serologies are tested during the first visit. Tests such as toxoplasmosis and CMV are evaluated when necessary. Infections can lead to serious consequences for both the mother and the fetus; proper management is important.

The role of ultrasound: types and timing

Ultrasound is the most commonly used, non-invasive, and reliable imaging method for both diagnosis and follow-up in pregnancy. Different protocols are applied for different purposes:

Early pregnancy ultrasound (weeks 6–10)

Ideal for identifying intrauterine pregnancy, demonstrating heartbeat, determining gestational age, and detecting multiple pregnancies.

Anomaly screening ultrasound (weeks 18–22)

Systematic evaluation of fetal organs, spine, heart, kidneys, facial structures, extremities, and placental location is specific to this period. A detailed anatomy examination performed by an experienced screening team allows for early planning of interventions that may be needed after birth.

Growth monitoring and Doppler studies (3rd trimester)

Monitoring fetal growth trends and evaluating placental blood flow with umbilical artery and uterine artery Doppler is particularly important in cases of IUGR or hypertension/preeclampsia risk. NST (non-stress test) and BPP (biophysical profile) are other fetal well-being tests applied when necessary.

Special ultrasound applications

• Transvaginal ultrasound: Preferred for early pregnancy and cervical length evaluation.
• Fetal echocardiography: Used to evaluate detailed heart structure when incomplete or suspicious fetal heart anomalies are seen.
• 3D/4D ultrasound: Provides support, especially in some structural evaluations like facial anomalies; it does not replace routine anomaly screening.

Nutrition, vitamins, and lifestyle recommendations

Adequate and balanced nutrition during pregnancy is critical for both maternal health and fetal development. The following recommendations are general advice:

Basic principles of nutrition

• Daily calorie needs increase according to trimesters; there is an additional calorie requirement especially in the second and third trimesters (should be increased balancedly according to your doctor’s recommendation).
• Protein consumption should be increased (quality protein sources such as meat, fish, legumes, dairy products, eggs).
• Iron intake is important; foods rich in iron (red meat, chicken, dried legumes, spinach) should be preferred; iron supplements should be used if recommended by the physician.
• Folic acid (400–800 mcg) is necessary to support brain and spinal cord development, especially starting from the pregnancy planning period through the first trimester.
• Calcium and Vitamin D intake is important for bone health; supplements may be recommended if there is a deficiency.

Items to be limited

• Raw or undercooked meat, unpasteurized dairy products, raw fish (like sushi), and processed seafood should be limited (risk of foodborne infection).
• Large fish species that may contain high mercury (swordfish, shark, large species of mackerel) should be limited; fish with low mercury content such as salmon and trout should be preferred.
• Alcohol is strictly not recommended. Smoking should be avoided; secondhand smoke should also be avoided.

Medication use, vaccinations, and safety

Medication use during pregnancy is planned by the doctor with a risk-benefit assessment. Always consult your physician before taking any medication during pregnancy. Specialist guidance is required for chronic diseases (epilepsy, thyroid diseases, hypertension, diabetes, etc.) where treatment needs to be discontinued or changed.

Vaccination recommendations

Current recommendations may vary by geography and institution. However, in general practice:

• Influenza (Flu) vaccine: Getting the seasonal flu vaccine during pregnancy is effective in protecting both the mother and the newborn.
• Tdap (tetanus-diphtheria-pertussis): A single dose may be recommended in the third trimester, especially to reduce the risk of pertussis (whooping cough); timing may vary according to national guidelines.

Practical notes on drug safety

• Even the use of over-the-counter or herbal products can pose a risk during pregnancy; do not take any new medications or supplements without consulting your doctor.
• When pain relief is needed, acetaminophen (paracetamol) is generally preferred; NSAIDs (such as ibuprofen, aspirin) require caution, especially in the third trimester.

Birth: preparation, types of birth, and pain management

Birth planning is an important topic that should be discussed during the prenatal period. The place of birth, preferred mode of delivery, desire for epidural analgesia, breastfeeding plan, and emergency protocols should be discussed with the physician.

Types of birth

• Vaginal birth (natural birth): Preferred if the physician and obstetric conditions are suitable; it can be beneficial for breastfeeding and mother-baby bonding.
• Cesarean section: Preferred in pre-planned or emergency situations. Indications for planned cesarean may include placenta previa, certain fetal position anomalies, specific types of previous cesarean sections, or maternal medical conditions.
• Operative vaginal delivery (vacuum/forceps): Short-term intervention may be required in cases of fetal distress or failure to progress in labor.

Pain management

Pain management options include epidural analgesia (local anesthetic + opiate), spinal or combined spinal-epidural, systemic opioids, and non-pharmacological techniques (breathing techniques, water birth, TENS, etc.). The benefits and potential risks of each method should be explained by your physician.

Onset of labor and follow-up

The onset of labor is understood by uterine contractions becoming regular and the beginning of cervical dilation. Criteria for hospital admission include regular pains, rupture of membranes (water breaking), bleeding, or a decrease in fetal movements. Maternal vital signs and fetal heart rate are monitored continuously or intermittently during labor.

High-risk pregnancies: definition, management, and referral

A high-risk pregnancy covers situations where the mother or fetus requires more frequent and more advanced evaluation than standard prenatal follow-up. Such pregnancies should be managed in maternal-fetal medicine (perinatology) centers or by multidisciplinary teams.

Examples of high risk

• Chronic diseases: Management is required around Type 1/2 diabetes, hypertension, heart disease, and kidney disease.
• Complications developing during pregnancy: Preeclampsia/eclampsia, uncontrolled gestational diabetes, severe anemia.
• Fetal causes: IUGR, multiple anomalies, multiple pregnancies (especially monoamniotic twins), conditions requiring genetic diagnosis.
• Previous obstetric history: History of preterm birth, recurrent miscarriages, previous severe obstetric complications.

Management and referral criteria

When high risk is detected; the frequency of follow-up is increased, advanced imaging and tests (fetal echocardiography, frequent growth USG, Doppler, NST/BPP) are applied. If necessary, interventions such as hospitalization, steroid support (for fetal lung maturation if there is a risk of preterm birth), and magnesium sulfate (for neuroprotection in preterm birth) are planned. Patient referral should be made with a multidisciplinary decision.

Postpartum period and breastfeeding

The postpartum period is defined as the first 6 weeks after birth; both physical recovery and psychosocial adaptation are important during this process. The first 24–48 hours and the first week are periods that require particular attention.

Maternal follow-up

• Monitoring the amount of postpartum bleeding and uterine involution.
• Pain management, wound care (after cesarean or episiotomy), monitoring for signs of infection.
• Screening for postpartum depression and anxiety; referral to psychiatry/psychology when risky symptoms are seen.
• Ensuring nutrition and adequate fluid intake; monitoring exercise and activity (gradual activation according to physician’s recommendation).

Newborn and breastfeeding

Initial newborn examinations, Apgar scores, breastfeeding support, and basic care training should be provided. Breastfeeding should be initiated in the first hours, and lactation counseling should be offered according to need. Support should be provided for breastfeeding difficulties, nipple problems, or infant weight gain issues.

Postpartum contraception planning

Planning appropriate contraception in the postpartum period is important. Appropriate options (medicated IUD, condoms, progestin-only methods, etc.) are evaluated based on the post-cesarean status or breastfeeding status, and a decision is made by discussing with the patient.

Frequently Asked Questions (FAQ)

How many ultrasounds should be done during pregnancy?

General recommendation is at least three ultrasounds: early pregnancy (dating), weeks 18–22 detailed anatomy screening, and third-trimester growth follow-up. However, more frequent ultrasounds may be necessary based on risk factors.

Does NIPT show all genetic diseases?

No. NIPT screens for certain chromosomal abnormalities (Trisomy 21, 18, 13, etc.) with high sensitivity; however, it does not cover all genetic and structural anomalies. Positive screening results require invasive diagnosis for confirmation.

Which vaccines are safe during pregnancy?

The seasonal influenza vaccine and, when necessary, Tdap are generally safe and recommended during pregnancy. Current national guidelines and your physician’s recommendation are important.

Can I exercise?

In most pregnancies, light-to-moderate intensity exercise (walking, swimming, prenatal pilates/yoga) is recommended; however, it should be restricted in high-risk pregnancies or situations where your physician advises against it. Consult your physician before starting an exercise program.

Is vaginal birth after cesarean (VBAC) possible?

Vaginal birth after cesarean (VBAC) is possible for many patients; this decision is made based on the type of previous cesarean, the type of uterine incision, other complications over time, and the mother’s preference. Risks should be carefully evaluated.

Sources and About Prof. Dr. Birol Vural

Key sources:

• Republic of Türkiye Ministry of Health — Women’s and Reproductive Health documents and pregnancy/reference guides
• ACOG — Prenatal Care guidelines and practice bulletins