Prenatal diagnosis employs techniques to determine the health of an unborn fetus. It is helpful for managing pregnancy and planning for complications. Techniques include ultrasonography, amniocentesis, chorionic villus sampling, and analyzing maternal serum and fetal cells in maternal blood. Each technique can only be used during specific gestational periods and provides different information about potential fetal abnormalities.
This document provides an overview of prenatal screening and diagnosis of neural tube defects and Down syndrome. It discusses the incidence, risk factors, screening tests, and diagnostic evaluation for neural tube defects including ultrasound, maternal serum AFP testing, amniocentesis, and fetal MRI. Prenatal screening tests for aneuploidies like Down syndrome are also covered, including first trimester ultrasound, maternal serum markers, and integrated screening. Prevention through folic acid supplementation and pregnancy management options are summarized.
Prenatal diagnosis provides couples at risk of genetic disorders with informed choices. Non-invasive tests like maternal serum screening and ultrasound can detect abnormalities, while invasive tests like amniocentesis and chorionic villus sampling allow for chromosome analysis but carry small risks of miscarriage. Advanced maternal age is the most common indication for testing. Prenatal diagnosis aims to detect issues prenatally in order to provide counseling, reduce anxiety, and potentially enable prenatal treatment in the future through gene therapy.
Prenatal diagnosis employs techniques to determine the health of an unborn fetus. It is helpful for managing pregnancy and planning for complications. Techniques include ultrasonography, amniocentesis, chorionic villus sampling, and analyzing maternal serum and fetal cells in maternal blood. Each technique can only be used during specific gestational periods and provides different information about potential fetal abnormalities.
This document provides an overview of prenatal screening and diagnosis of neural tube defects and Down syndrome. It discusses the incidence, risk factors, screening tests, and diagnostic evaluation for neural tube defects including ultrasound, maternal serum AFP testing, amniocentesis, and fetal MRI. Prenatal screening tests for aneuploidies like Down syndrome are also covered, including first trimester ultrasound, maternal serum markers, and integrated screening. Prevention through folic acid supplementation and pregnancy management options are summarized.
Prenatal diagnosis provides couples at risk of genetic disorders with informed choices. Non-invasive tests like maternal serum screening and ultrasound can detect abnormalities, while invasive tests like amniocentesis and chorionic villus sampling allow for chromosome analysis but carry small risks of miscarriage. Advanced maternal age is the most common indication for testing. Prenatal diagnosis aims to detect issues prenatally in order to provide counseling, reduce anxiety, and potentially enable prenatal treatment in the future through gene therapy.
The World Health Organization (WHO) defined «healthy ageing»
as the process of developing and maintaining the functional ability
that enables wellbeing in older age.
Functional ability is referred to as the ability to:
- meet their basic needs,
- learn, grow and make decisions,
- be mobile,
- build and maintain relationships, and
- contribute to society
WHO describes this functional ability as being formed by interactions between intrinsic capacity and environmental characteristics.
The intrinsic capacity includes the mental and physical capacities of a person.
The environmental characteristics are related to home, community and society as a whole.
Management of menopausal symptoms for breast cancer survivorsTevfik Yoldemir
This document summarizes management strategies for menopausal symptoms in breast cancer survivors. It discusses pharmacological options like clonidine, oxybutynin, antidepressants, black cohosh, and phytoestrogens. It also covers mind-body practices like cognitive behavioral therapy and hypnosis. Non-hormonal treatments for vulvo-vaginal symptoms are discussed, as well as short-term low-dose local estrogen therapy. Management of menopausal symptoms requires a personalized approach balancing symptom relief with safety.
The World Health Organization (WHO) defined «healthy ageing»
as the process of developing and maintaining the functional ability
that enables wellbeing in older age.
Functional ability is referred to as the ability to:
- meet their basic needs,
- learn, grow and make decisions,
- be mobile,
- build and maintain relationships, and
- contribute to society
WHO describes this functional ability as being formed by interactions between intrinsic capacity and environmental characteristics.
The intrinsic capacity includes the mental and physical capacities of a person.
The environmental characteristics are related to home, community and society as a whole.
Management of menopausal symptoms for breast cancer survivorsTevfik Yoldemir
This document summarizes management strategies for menopausal symptoms in breast cancer survivors. It discusses pharmacological options like clonidine, oxybutynin, antidepressants, black cohosh, and phytoestrogens. It also covers mind-body practices like cognitive behavioral therapy and hypnosis. Non-hormonal treatments for vulvo-vaginal symptoms are discussed, as well as short-term low-dose local estrogen therapy. Management of menopausal symptoms requires a personalized approach balancing symptom relief with safety.
The document discusses several studies related to endometriosis and IVF outcomes. It provides summaries of studies that examined:
- Live birth rates, clinical pregnancy rates, number of oocytes retrieved, and miscarriage rates for patients with endometriosis undergoing IVF compared to controls.
- IVF outcomes based on the severity of endometriosis compared to controls.
- Outcomes of fresh versus frozen embryo transfers.
- The risk of embryonic aneuploidy in patients with endometriosis.
- Treatment guidelines from ESHRE on the use of IVF and surgery for infertility associated with endometriosis.
Pelvic anatomy in relation with pelvic organ prolapseTevfik Yoldemir
The document discusses pelvic organ prolapse from an anatomical perspective. It describes the layers of fascia and muscles that provide support to the pelvic organs. Damage to the fascia can result in cystocele, rectocele, or uterine prolapse as the pelvic organs lose support and protrude into the vaginal canal. The document outlines the components of the pelvic floor according to the Integral Theory and how dysfunction, such as stress urinary incontinence, can result from weakness or damage in specific areas. Assessment tools like the Pelvic Floor Distress Inventory and Pelvic Floor Impact Questionnaire are also mentioned for evaluating patients.
Certain viruses can be transmitted from mother to fetus during pregnancy and cause fetal or neonatal damage. These include cytomegalovirus, rubella virus, varicella zoster virus, herpes simplex virus, and parvovirus B19. Cytomegalovirus is the most common cause, with an estimated 1% of newborns infected worldwide. Severe damage from cytomegalovirus, such as cytomegalic inclusion disease, occurs in about 1 in 5,000 to 1 in 20,000 births. Transmission is more likely when a mother has a primary infection compared to a recurrent infection. Clinical manifestations in the newborn are also more common following primary maternal infection.
This document discusses different types of energy modalities used in surgery including monopolar, bipolar, ultrasonic, and plasma kinetic technologies. Monopolar energy uses an active electrode at the surgical site and a return electrode elsewhere on the patient's body, allowing for tissue cutting, coagulation, and desiccation. Bipolar energy passes between two close electrodes, minimizing collateral damage. Advanced bipolar technologies like Ligasure, Plasma Kinetic Gyrus, and Enseal can additionally seal and transect tissue. Ultrasonic devices use high frequency vibrations to denature proteins for coagulation and mechanical cutting. The effects of different energies on tissue are described, noting temperatures at which protein denaturation and
This document discusses techniques for diagnosing endometriosis, including magnetic resonance imaging (MRI) and transvaginal ultrasound (TVS). It provides details on MRI protocols, including patient preparation, positioning, and rectal opacification. It also outlines four basic steps for a TVS exam when evaluating for deep infiltrating endometriosis: 1) evaluating the uterus and adnexa; 2) assessing for soft markers like tenderness and ovarian mobility; 3) using the "sliding sign" to assess the pouch of Douglas; and 4) searching for endometriosis nodules. The document also discusses agreement between observers for diagnosing deep infiltrating endometriosis using TVS in different pelvic
This document summarizes research on the effects of alternative hormonal treatments, including bazedoxifene, on various tissues in humans. It discusses preclinical and clinical data on the effects of ospemifene, tamoxifen, raloxifene, and bazedoxifene on the endometrium, vagina, breast, and bone. It then summarizes results from several clinical trials, known as the SMART trials, that evaluated the efficacy and safety of a combination of conjugated estrogens and bazedoxifene for vasomotor symptoms, quality of life, vaginal health, and bone mineral density and fracture risk reduction.
1. The document discusses premature ovarian insufficiency (POI), including delays in diagnosis contributing to low bone density. For every month of delayed diagnosis, spine bone mineral density decreases by 0.026.
2. POI can manifest as delayed puberty, primary or secondary amenorrhea, or irregular periods. Genetic factors are responsible for some cases, with mutations in meiotic and DNA repair genes linked to syndromic and non-syndromic POI.
3. Treatment of POI involves hormone replacement therapy to mimic normal estrogen and progesterone levels. Estrogen therapy should begin at age 12-13 and be gradually increased over 2-3 years. Progestogen is later added for endometrial protection
This document discusses menopause and osteoporosis, including clinical risk factors for osteoporosis, indications for bone mineral density testing, hip fractures and biochemical markers of bone turnover. It also addresses calcium content of food, pharmacologic agents for osteoporosis, changes in lumbar spine and total hip bone mineral density, vertebral and non-vertebral fractures, and risks and benefits of hormone replacement therapy, including its effects on cardiovascular disease, cancer risks, and risks of breast and endometrial cancer. Contact information is provided for further questions.
This document discusses tests that should be performed before various forms of contraception including IUD insertion, implant insertion, DMPA initiation, OCP use, and POP initiation. It also mentions that follow-up is important and that PID can sometimes be found in IUD users. The document is authored by Tevfik Yoldemir MD BSc MA and provides his contact information and links to additional information on contraception.
The document provides treatment guidelines for several sexually transmitted infections (STIs):
- Chancroid is diagnosed based on painful genital ulcers and lymphadenopathy. It is treated with azithromycin, ceftriaxone, ciprofloxacin, or erythromycin.
- Herpes is typically treated with acyclovir, valacyclovir, or famciclovir for suppressive or episodic therapy. Pregnant women may take acyclovir or valacyclovir.
- Syphilis treatment depends on stage, and involves benzathine penicillin for most cases.
This document contains a summary of topics related to early pregnancy complications and abortion. It lists bleeding in early pregnancy, ectopic pregnancy, risk factors and algorithms for diagnosis, methotrexate protocol, molar pregnancy symptoms and management, and habitual abortion as sections within the document. Contact information is provided for Dr. Tevfik Yoldemir as the author along with links to additional resources on these medical topics.
This document discusses menstrual cycle disorders and their causes and treatment. It defines menorrhagia as heavy menses in ovulatory women, and metrorrhagia as irregular bleeding during an ovulatory cycle. Common causes of abnormal uterine bleeding (AUB) include uterine fibroids, endometrial polyps, and adenomyosis. Evaluation of AUB may involve a saline-infused sonogram. Medical treatments aim to regulate hormone levels and bleeding patterns through contraceptives and cyclic progestin-only regimens.
This document discusses chronic pelvic pain and associated disorders. It covers chronic pelvic pain disorders, different physical examination positions, diagnostic tests, endometriosis, and provides contact information for questions. The document appears to be notes from a presentation or article on evaluating and diagnosing chronic pelvic pain and conditions that may cause it such as endometriosis.
This document summarizes research on endometriosis beyond late reproductive age. It discusses findings that endometriosis persists and can recur even after menopause. Studies show endometriosis symptoms continue across all age groups and surgical recurrence rates remain high. Hormone replacement therapy after menopause may increase risk of endometriosis recurrence and malignant transformation. Emerging treatments for endometriosis that are discussed include GnRH antagonists, aromatase inhibitors, and other drug classes targeting factors like angiogenesis and inflammation.
This document summarizes several studies on the impact of fibroids on fertility and in vitro fertilization (IVF) outcomes. It discusses factors like sample size calculations, reliability and validity of research data, and potential confounding factors in sham surgery trials. It then summarizes multiple studies that found no significant impact or decreased live birth rates with intramural fibroids not distorting the uterine cavity compared to controls without fibroids undergoing IVF. The document provides an expert review of the evidence on fibroids and fertility.
1. The document discusses fertility options for women over age 40, what is realistic and not realistic. It provides data from studies on pregnancy rates by age and discusses strategies like tailored stimulation protocols, embryo selection techniques, and oocyte accumulation.
2. Case studies are presented of women over 40 concerned about their fertility. The document recommends counseling based on AMH, AFC, prior response and discussing tailored protocols, cumulative success rates, and alternative options.
3. Strategies discussed include minimal or double stimulation protocols, embryo banking, oocyte donation, and new selection techniques, but individualized assessment is important due to variability.
- Maternal nutrition and environmental exposures during pregnancy can impact the fetal epigenome through DNA methylation, histone modifications, and microRNAs. This can increase the risk of health issues like metabolic syndrome later in life.
- Certain phytochemicals from foods like epigallocatechin gallate, resveratrol, genistein, and curcumin may beneficially influence the fetal epigenome by regulating enzymes involved in epigenetic modifications.
- Adequate intake of nutrients like vitamins, minerals, and phytochemicals during pregnancy and lactation may help protect the offspring by modulating the fetal epigenome.
1. 02.11.2014
1
Birinci Trimesterde Tarama
Dr Tevfik Yoldemir
Marmara Üniversitesi Tıp Fakültesi
Kadın Hastalıkları ve Doğum A.D.
Perinatoloji B.D.
tevfik@yoldemir.com
Down Sendromu Tarama Stratejileri
tevfik@yoldemir.com
Tekil gebelikler—Maternal yaşa bağlı background risk Dizygotik İkiz gebelikler—Maternal yaşa bağlı background risk
PAPP-A - ßHCG Nazal kemik
2. 02.11.2014
2
PAPP-A - ßHCG PAPP-A - ßHCG
Triküspid akım Duktus venozus akımı
Duktus Venozus PI NT / DV PI
3. 02.11.2014
3
Uterin arter Doppleri Uterin arter Doppleri
Hesaplanan riske göre yönetim Orta riskli grubun yönetimi
Software – Risk hesaplaması NNuukkaall ssaayyddaammllııkk ööllççüümmüü
CRL ~ 45 mm-84 mm (11 - 13+6 hf)
Transvaginal
İyi sagittal kesit
Baş ve 1/3 toraks resimde olmalı
Amniondan uzakta
Nötral pozisyonda
umbilikal kordonu ayırt etmeli
Kalliperlerin doğru yerleştirilmesi
Maksimum saydamlık.
4. 02.11.2014
4
Nuckal saydamlık kalınlığı
mekanizmaları
Artmış NT kalınlığı ve normal karyotip Artmış NT kalınlığı ve normal karyotip
5. 02.11.2014
5
Artmış NT kalınlığı ve normal karyotip NT ve majör kardiak defektler
NT ve majör kardiak defektler NT ve kardiak defektler
Normal ve anormal karyotip ve
artmış NT – kardiak defektler
Triküspid / Duktus venozus
6. 02.11.2014
6
1.Trimesterde Fetal anatomi
Beyin sapı çapı/ beyin sapından
oksipital kemik mesafesi oranı
Beyin sapı çapı/ beyin sapından oksipital
kemik mesafesi oranı – Spina bifida
Beyin sapı çapı/ beyin sapından oksipital
kemik mesafesi oranı – Spina bifida
Karın önduvarı Mesane
7. 02.11.2014
7
Prefrontal boşluk oranı Prefrontal boşluk oranı
Prefrontal boşluk oranı Prefrontal boşluk oranı
Prefrontal boşluk oranı Prefrontal boşluk oranı
8. 02.11.2014
8
Prefrontal boşluk oranı
Etkileyen değişkenler
Prefrontal boşluk oranı
Erken doğum - Annenin özellikleri Servikal uzunluk
Erken doğum – servikal uzunluk
9. 02.11.2014
9
Erken doğum – servikal uzunluk İkiz gebelik
Lambda belirtisi- DK T işareti-MK
Tanıda doğruluk BazıMajör Fetal Anomalilerle ilişkili Anöploidi Riski
tevfik@yoldemir.com